101 results on '"Wegberg, A. van"'
Search Results
2. Feeding Problems in Patients with Noonan Syndrome: A Narrative Review
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Tiemens, D.K., Haaften, L. van, Leenders, E.K.S.M., Wegberg, A.M.J. van, Geelen, J.M., Draaisma, J.M.T., Tiemens, D.K., Haaften, L. van, Leenders, E.K.S.M., Wegberg, A.M.J. van, Geelen, J.M., and Draaisma, J.M.T.
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Contains fulltext : 247671.pdf (Publisher’s version ) (Open Access)
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- 2022
3. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
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Veenvliet, Annemarijne R.J., Garrelfs, M.R., Udink ten Cate, F.E.A., Ferdinandusse, S., Denis, Simone, Fuchs, Sabine A., Geurtzen, R., Wegberg, A.M.J. van, Huigen, M.C.D.G., Kluijtmans, L.A.J., Wanders, Ronald J.A., Derks, Terry G.J., Boer, L. de, Houtkooper, Riekelt H., Vries, M.C. de, Karnebeek, C.D. van, Veenvliet, Annemarijne R.J., Garrelfs, M.R., Udink ten Cate, F.E.A., Ferdinandusse, S., Denis, Simone, Fuchs, Sabine A., Geurtzen, R., Wegberg, A.M.J. van, Huigen, M.C.D.G., Kluijtmans, L.A.J., Wanders, Ronald J.A., Derks, Terry G.J., Boer, L. de, Houtkooper, Riekelt H., Vries, M.C. de, and Karnebeek, C.D. van
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Item does not contain fulltext
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- 2022
4. Meta-analyses of cognitive functions in early-treated adults with phenylketonuria.
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Romani, C., Olson, A., Aitkenhead, L., Baker, L., Patel, D., Spronsen, F.V., MacDonald, A., Wegberg, A.M.J. van, Huijbregts, S., Romani, C., Olson, A., Aitkenhead, L., Baker, L., Patel, D., Spronsen, F.V., MacDonald, A., Wegberg, A.M.J. van, and Huijbregts, S.
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01 december 2022, Item does not contain fulltext, Our study estimated size of impairment for different cognitive functions in early-treated adults with PKU (AwPKU) by combining literature results in a meta-analytic way. We analysed a large set of functions (N = 19), each probed by different measures (average = 12). Data were extracted from 26 PKU groups and matched controls, with 757 AwPKU contributing 220 measures. Effect sizes (ESs) were computed using Glass' ∆ where differences in performance between clinical/PKU and control groups are standardized using the mean and standard deviation of the control groups. Significance was assessed using measures nested within independent PKU groups as a random factor. The weighted Glass' ∆ was - 0.44 for all functions taken together, and - 0.60 for IQ, both highly significant. Separate, significant impairments were found for most functions, but with great variability (ESs from -1.02 to -0.18). The most severe impairments were in reasoning, visual-spatial attention speed, sustained attention, visuo-motor control, and flexibility. Effect sizes were larger with speed than accuracy measures, and with visuo-spatial than verbal stimuli. Results show a specific PKU profile that needs consideration when monitoring the disease.
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- 2022
5. High energy expenditure in a patient with feeding problems and Noonan syndrome spectrum disorder
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Tiemens, D.K., Wegberg, A.M.J. van, Druten, D.V., Draaisma, J.M.T., Tiemens, D.K., Wegberg, A.M.J. van, Druten, D.V., and Draaisma, J.M.T.
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Contains fulltext : 252164.pdf (Publisher’s version ) (Open Access), Feeding problems are present in more than 50% of patients with a Noonan syndrome spectrum disorder in the first years of life. Food intake problems like severe or frequently vomiting may not only affect growth and development, but may also influence the process of learning how to eat and can have a great impact on the whole family. In addition to food intake problems, there is growing evidence that patients with a Noonan syndrome spectrum disorder may have a lower body mass index (BMI) due to a high energy expenditure, although little is known about the actual energy intake patients with a Noonan syndrome spectrum disorder need to maintain a healthy BMI. This article illustrates the challenge to recognise a high energy expenditure especially when a patient frequently vomits. Multidisciplinary attention is needed to manage food intake, vomiting and energy expenditure problems in patients with a Noonan syndrome spectrum disorder.
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- 2022
6. Clinical Reasoning: Pediatric Seizures of Unknown Cause
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Tseng, L.A., Konijnenburg, E.M.M. Hoytema van, Longo, N., Andrews, A., Wegberg, A.M.J. van, Coene, K.L.M., Coughlin, C.R., Karnebeek, C.D.M. van, Tseng, L.A., Konijnenburg, E.M.M. Hoytema van, Longo, N., Andrews, A., Wegberg, A.M.J. van, Coene, K.L.M., Coughlin, C.R., and Karnebeek, C.D.M. van
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Item does not contain fulltext
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- 2022
7. Caring for Ukrainian refugee children with acute and chronic diseases
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Giżewska, M., Wegberg, A.M.J. van, Maillot, F., Trefz, F., Spronsen, F.J. van, Giżewska, M., Wegberg, A.M.J. van, Maillot, F., Trefz, F., and Spronsen, F.J. van
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Item does not contain fulltext
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- 2022
8. Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
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Evers, R.A.F., Wegberg, A.M.J. van, MacDonald, A., Huijbregts, S.C.J., Leuzzi, V., Spronsen, F.J. van, Evers, R.A.F., Wegberg, A.M.J. van, MacDonald, A., Huijbregts, S.C.J., Leuzzi, V., and Spronsen, F.J. van
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Item does not contain fulltext, PURPOSE: this systematic review aimed to assess the effects of dietary liberalization following tetrahydrobiopterin (BH(4)) treatment on anthropometric measurements, nutritional biomarkers, quality of life, bone density, mental health and psychosocial functioning, and burden of care in PKU patients. METHODS: the PubMed, Cochrane, and Embase databases were searched on 7 April 2022. We included studies that reported on the aforementioned domains before and after dietary liberalization as a result of BH(4) treatment in PKU patients. Exclusion criteria were: studies written in a language other than English; studies that only included data of a BH(4) loading test; insufficient data for the parameters of interest; and wrong publication type. Both within-subject and between-subject analyses were assessed, and meta-analyses were performed if possible. RESULTS: twelve studies containing 14 cohorts and 228 patients were included. Single studies reported few significant differences. Two out of fifteen primary meta-analyses were significant; BMI was higher in BH(4)-treated patients versus controls (p = 0.02; standardized mean difference (SMD) (95% confidence interval (CI)) = -0.37 (-0.67, -0.06)), and blood cholesterol concentrations increased after starting BH(4) treatment (p = 0.01; SMD (CI) = -0.70 (-1.26, -0.15)). CONCLUSION: there is no clear evidence that dietary liberalization after BH(4) treatment has a positive effect on anthropometric measurements, nutritional biomarkers, or quality of life. No studies could be included for bone density, mental health and psychosocial functioning, and burden of care.
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- 2022
9. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
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Coughlin, C., Tseng, L.A., Bok, L.A., Hartmann, H., Footitt, E.J., Striano, Pasquale, Janssen, M.C.H., Wegberg, A.M.J. van, Gospe, Sidney M., Jr., Karnebeek, Clara van, Coughlin, C., Tseng, L.A., Bok, L.A., Hartmann, H., Footitt, E.J., Striano, Pasquale, Janssen, M.C.H., Wegberg, A.M.J. van, Gospe, Sidney M., Jr., and Karnebeek, Clara van
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Item does not contain fulltext
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- 2022
10. High energy expenditure in a patient with feeding problems and Noonan syndrome spectrum disorder
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Tiemens, Dagmar, primary, Wegberg, Annemiek van, additional, Druten, Debbie van, additional, and Draaisma, Jos, additional
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- 2022
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11. Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
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Zweers, H.E., Wegberg, A.M.J. van, Janssen, M.C.H., Wortmann, S.B., Zweers, H.E., Wegberg, A.M.J. van, Janssen, M.C.H., and Wortmann, S.B.
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Contains fulltext : 235305.pdf (Publisher’s version ) (Open Access), BACKGROUND: No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge free radicals, putting ketogenic diets (KDs) on the list of management options for MD. Furthermore, KDs are well-known, safe and effective treatments for epilepsy, a frequent symptom of MD. This systematic review evaluates efficacy and safety of KD for MD. METHODS: We searched Pubmed, Cochrane, Embase and Cinahl (November 2020) with search terms linked to MD and KD. From the identified records, we excluded studies on Pyruvate Dehydrogenase Complex deficiency. From these eligible reports, cases without a genetically confirmed diagnosis and cases without sufficient data on KD and clinical course were excluded. The remaining studies were included in the qualitative analysis. RESULTS: Only 20 cases (14 pediatric) from the 694 papers identified met the inclusion criteria (one controlled trial (n��= 5), 15 case reports). KD led to seizure control in 7 out of 8 cases and improved muscular symptoms in 3 of 10 individuals. In 4 of 20 cases KD reversed the clinical phenotype (e.g. cardiomyopathy, movement disorder). In 5 adults with mitochondrial DNA deletion(s) related myopathy rhabdomyolysis led to cessation of KD. Three individuals with POLG mutations died while being on KD, however, their survival was not different compared to individuals with POLG mutations without KD. CONCLUSION: Data on efficacy and safety of KD for MD is too scarce for general recommendations. KD should be considered in individuals with MD and therapy refractory epilepsy, while KD is contraindicated in mitochondrial DNA deletion(s) related myopathy. When considering KD for MD the high rate of adverse effects should be taken into account, but also spectacular improvements in individual cases. KD is a highly individual management option in this fragile patient group and requires an expe
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- 2021
12. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
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Wegberg, A.M.J. van, Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M.S., Maillot, F., Spronsen, F.J. van, Wegberg, A.M.J. van, Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M.S., Maillot, F., and Spronsen, F.J. van
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Item does not contain fulltext, Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.
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- 2021
13. Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis
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Rodrigues, C., Pinto, A., Faria, A., Teixeira, D., Wegberg, A.M.J. van, Ahring, K., Feillet, F., Calhau, C., MacDonald, A., Moreira-Rosário, A., Rocha, J.C., Rodrigues, C., Pinto, A., Faria, A., Teixeira, D., Wegberg, A.M.J. van, Ahring, K., Feillet, F., Calhau, C., MacDonald, A., Moreira-Rosário, A., and Rocha, J.C.
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Contains fulltext : 244636.pdf (Publisher’s version ) (Open Access), Although there is a general assumption that a phenylalanine (Phe)-restricted diet promotes overweight in patients with phenylketonuria (PKU), it is unclear if this presumption is supported by scientific evidence. This systematic review aimed to determine if patients with PKU are at a higher risk of overweight compared to healthy individuals. A literature search was carried out on PubMed, Cochrane Library, and Embase databases. Risk of bias of individual studies was assessed using the Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies, and the quality of the evidence for each outcome was assessed using the NutriGrade scoring system. From 829 articles identified, 15 were included in the systematic review and 12 in the meta-analysis. Body mass index (BMI) was similar between patients with PKU and healthy controls, providing no evidence to support the idea that a Phe-restricted diet is a risk factor for the development of overweight. However, a subgroup of patients with classical PKU had a significantly higher BMI than healthy controls. Given the increasing prevalence of overweight in the general population, patients with PKU require lifelong follow-up, receiving personalised nutritional counselling, with methodical nutritional status monitoring from a multidisciplinary team in inherited metabolic disorders.
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- 2021
14. Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria
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Wegberg, A.M.J. van, Evers, R.A.F., Burgerhof, J.G.M., Dam, Esther van, Heiner-Fokkema, M.R., Janssen, M.C.H., Vries, M.C. de, Spronsen, F.J. van, Wegberg, A.M.J. van, Evers, R.A.F., Burgerhof, J.G.M., Dam, Esther van, Heiner-Fokkema, M.R., Janssen, M.C.H., Vries, M.C. de, and Spronsen, F.J. van
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Item does not contain fulltext
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- 2021
15. Does the 48-hour BH4 loading test miss responsive PKU patients?
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Wegberg, A.M.J. van, Evers, Roeland A.F., Dam, Esther van, Vries, M.C. de, Janssen, M.C.H., Heiner-Fokkema, M.R., Spronsen, Francjan J. van, Wegberg, A.M.J. van, Evers, Roeland A.F., Dam, Esther van, Vries, M.C. de, Janssen, M.C.H., Heiner-Fokkema, M.R., and Spronsen, Francjan J. van
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Contains fulltext : 217632.pdf (Publisher’s version ) (Open Access)
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- 2020
16. The first European guidelines on phenylketonuria: Usefulness and implications for BH(4) responsiveness testing
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Evers, R.A.F., Wegberg, A.M.J. van, Anjema, K., Lubout, C.M.A., Dam, E. van, Vliet, Danique van, Blau, N., Spronsen, F.J. van, Evers, R.A.F., Wegberg, A.M.J. van, Anjema, K., Lubout, C.M.A., Dam, E. van, Vliet, Danique van, Blau, N., and Spronsen, F.J. van
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Contains fulltext : 220018.pdf (Publisher’s version ) (Closed access), OBJECTIVE: This study aimed to investigate and improve the usefulness of the 48-hour BH(4) loading test and to assess genotype for BH(4) responsiveness prediction, using the new definition of BH(4) responsiveness from the European guidelines, as well as an amended definition. METHOD: Applying the definition of the European guidelines (≥100% increase in natural protein tolerance) and an amended definition (≥100% increase in natural protein tolerance or tolerating a safe natural protein intake) to a previous dataset, we first assessed the positive predictive value (PPV) of the 48-hour BH(4) loading test using a cutoff value of 30%. Then, we tried to improve this PPV by using different cutoff values and separate time points. Last, using the BIOPKU database, we compared predicted BH(4) responsiveness (according to genotype) and genotypic phenotype values (GPVs) in BH(4) -responsive and BH(4) -unresponsive patients. RESULTS: The PPV of the 48-hour loading test was 50.0% using the definition of the European guidelines, and 69.4% when applying the amended definition of BH(4) responsiveness. Higher cutoff values led to a higher PPV, but resulted in an increase in false-negative tests. Parameters for genotype overlapped between BH(4) -responsive and BH(4) -unresponsive patients, although BH(4) responsiveness was not observed in patients with a GPV below 2.4. CONCLUSION: The 48-hour BH(4) loading test is not as useful as previously considered and cannot be improved easily, whereas genotype seems mainly helpful in excluding BH(4) responsiveness. Overall, the definition of BH(4) responsiveness and BH(4) responsiveness testing require further attention.
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- 2020
17. Dietary practices in methylmalonic acidaemia: a European survey
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Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., MacDonald, A., Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., and MacDonald, A.
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Contains fulltext : 220058.pdf (Publisher’s version ) (Open Access), Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to
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- 2020
18. 28.3 A 28μW 134dB DR 2nd-Order Noise-Shaping Slope Light-to-Digital Converter for Chest PPG Monitoring
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Lin, Qiuyang, primary, Song, Shuang, additional, Wegberg, Roland Van, additional, Konijnenburg, Mario, additional, Biswas, Dwaipayan, additional, Hoof, Chris Van, additional, Tavernier, Filip, additional, and Helleputte, Nick Van, additional
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- 2021
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19. Dietary practices in methylmalonic acidaemia: a European survey
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Pinto, Alex, primary, Evans, Sharon, additional, Daly, Anne, additional, Almeida, Manuela Ferreira, additional, Assoun, Murielle, additional, Belanger-Quintana, Amaya, additional, Bernabei, Silvia Maria, additional, Bollhalder, Sandra, additional, Cassiman, David, additional, Champion, Helena, additional, Chan, Heidi, additional, Corthouts, Karen, additional, Dalmau, Jaime, additional, Boer, Foekje de, additional, Laet, Corinne De, additional, Meyer, An de, additional, Desloovere, An, additional, Dianin, Alice, additional, Dixon, Marjorie, additional, Dokoupil, Katharina, additional, Dubois, Sandrine, additional, Eyskens, Francois, additional, Faria, Ana, additional, Fasan, Ilaria, additional, Favre, Elisabeth, additional, Feillet, François, additional, Fekete, Anna, additional, Gallo, Giorgia, additional, Gingell, Cerys, additional, Gribben, Joanna, additional, Hansen, Kit Kaalund, additional, Horst, Nienke Ter, additional, Jankowski, Camille, additional, Janssen-Regelink, Renske, additional, Jones, Ilana, additional, Jouault, Catherine, additional, Kahrs, Gudrun Elise, additional, Kok, Irene, additional, Kowalik, Agnieszka, additional, Laguerre, Catherine, additional, Verge, Sandrine Le, additional, Liguori, Alessandra, additional, Lilje, Rina, additional, Maddalon, Cornelia, additional, Mayr, Doris, additional, Meyer, Uta, additional, Micciche, Avril, additional, Och, Ulrike, additional, Robert, Martine, additional, Rocha, Júlio César, additional, Rogozinski, Hazel, additional, Rohde, Carmen, additional, Ross, Kathleen, additional, Saruggia, Isabelle, additional, Schlune, Andrea, additional, Singleton, Kath, additional, Sjoqvist, Elisabeth, additional, Skeath, Rachel, additional, Stolen, Linn Helene, additional, Terry, Allyson, additional, Timmer, Corrie, additional, Tomlinson, Lyndsey, additional, Tooke, Alison, additional, Kerckhove, Kristel Vande, additional, van Dam, Esther, additional, Hurk, Dorine van den, additional, Ploeg, Liesbeth van der, additional, van Driessche, Marleen, additional, van Rijn, Margreet, additional, Wegberg, Annemiek van, additional, Vasconcelos, Carla, additional, Vestergaard, Helle, additional, Vitoria, Isidro, additional, Webster, Diana, additional, White, Fiona, additional, White, Lucy, additional, Zweers, Heidi, additional, and MacDonald, Anita, additional
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- 2019
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20. Weaning practices in phenylketonuria vary between health professionals in Europe
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Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. Atik, Barrio-Carreras, D., Quintana, A. Belanger, Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., Leo, S. De, Desloovere, A., Meyer, A, Theux, A. De, Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Gingell, C., Goncalves, C., Ozel, H. Gokmen, Grimsley, A., Gugelmo, G., Gyure, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jorg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koc, N., Kok, I.L., Kozanoglu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Lubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedron-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Dionigi, A. Re, Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A, Ruiz, M., Saligova, J., Gutierrez-Sanchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Gizewska, M., Terry, A., Wegberg, A.M.J. van, Zuvadelli, J., MacDonald, A., Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. Atik, Barrio-Carreras, D., Quintana, A. Belanger, Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., Leo, S. De, Desloovere, A., Meyer, A, Theux, A. De, Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Gingell, C., Goncalves, C., Ozel, H. Gokmen, Grimsley, A., Gugelmo, G., Gyure, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jorg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koc, N., Kok, I.L., Kozanoglu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Lubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedron-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Dionigi, A. Re, Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A, Ruiz, M., Saligova, J., Gutierrez-Sanchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Gizewska, M., Terry, A., Wegberg, A.M.J. van, Zuvadelli, J., and MacDonald, A.
- Abstract
Contains fulltext : 205374.pdf (publisher's version ) (Open Access), Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. Methods: A cross sectional questionnaire (survey monkey(R)) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. Results: Weaning started at 17-26weeks in 85% (n=81/95) of centres, >26weeks in 12% (n=11/95) and<17weeks in 3% (n=3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n=48/95) of centres introduced Phe containing foods at 17-26weeks and 48% (n=46/95) at >26weeks. First solids were mainly low Phe vegetables (59%, n=56/95) and fruit (34%, n=32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n=49/95) of centres predominantly from Northern and Southern Europe and 48% (n=46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n=39/95) of centres at infant age 26-36weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n=35/95) at infant age>1y mainly from Southern Europe. 53% (n=50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. Conclusions: Weaning strategies vary throughout European PKU centres. There
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- 2019
21. Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
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Vliet, Danique van, Wegberg, A.M.J. van, Ahring, K., Bik-Multanowski, M., Casas, K., Didycz, B., Djordjevic, M., Hertecant, J.L., Leuzzi, V., Mathisen, P., Nardecchia, F., Powell, K.K., Rutsch, F., Stojiljkovic, M., Trefz, F.K., Usurelu, N., Wilson, C., Karnebeek, C.D. van, Hanley, W.B., Spronsen, F.J. van, Vliet, Danique van, Wegberg, A.M.J. van, Ahring, K., Bik-Multanowski, M., Casas, K., Didycz, B., Djordjevic, M., Hertecant, J.L., Leuzzi, V., Mathisen, P., Nardecchia, F., Powell, K.K., Rutsch, F., Stojiljkovic, M., Trefz, F.K., Usurelu, N., Wilson, C., Karnebeek, C.D. van, Hanley, W.B., and Spronsen, F.J. van
- Abstract
Contains fulltext : 215339.pdf (publisher's version ) (Open Access), Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal plasma phenylalanine target levels would result in optimal neurocognitive outcomes for all patients, as similar plasma phenylalanine concentrations do not seem to have the same consequences to the brain for each PKU individual. To better understand the inter-individual differences in brain vulnerability to high plasma phenylalanine concentrations, we aimed to identify untreated and/or late-diagnosed PKU patients with near-normal outcome, despite high plasma phenylalanine concentrations, who are still alive. In total, we identified 16 such cases. While intellectual functioning in these patients was relatively unaffected, they often did present other neurological, psychological, and behavioral problems. Thereby, these "unusual" PKU patients show that the classical symptomatology of untreated or late-treated PKU may have to be rewritten. Moreover, these cases show that a lack of intellectual dysfunction despite high plasma phenylalanine concentrations does not necessarily imply that these high phenylalanine concentrations have not been toxic to the brain. Also, these cases may suggest that different mechanisms are involved in PKU pathophysiology, of which the relative importance seems to differ between patients and possibly also with increasing age. Further research should aim to better distinguish PKU patients with respect to their cerebral effects to high plasma phenylalanine concentrations.
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- 2019
22. Compatibility choice by multi-market firms
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Wegberg, Marc van
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Telecommunications equipment industry -- Management ,Telecommunications equipment industry -- Marketing ,Technology assessment -- Research ,Telecommunications equipment industry ,Company marketing practices ,Company business management ,Business ,Computers and office automation industries ,Economics ,Library and information science - Abstract
Compatibility of products by different vendors has a large effect on the product market. A change in the multi product or multi-market scope of a firm will create a strategic shift in compatibility choices. Both mergers and alliances impact the scope of products or product markets. A model is designed to explain the possible strategy shift of a merger or alliance resulting from feedback between the various markets served by the firm.
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- 2004
23. Credible entry threats into contestable markets: a symmetric multi-market model of contestabilit y
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Wegberg, Marc van and Witteloostuijn, Arjen van
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Competition (Economics) -- Research ,Barriers to entry (Industrial organization) -- Research ,Business ,Business, general ,Economics - Abstract
The theory of contestable markets emphasizes potential competition; yet it is reticent on the identity of potential entrants. Recent literature discusses the (im)possibility of hit-and-run entry for several types of entrants. Cairns and Mahabir (1988) argue that existing firms in related markets are most likely to be capable of hit-and-run entry, but unlikely to be motivated. This paper expands their arguments by sketching a multi-market framework and by discussing a model that captures most of the current debate. The model marks a first step into revising contestability theory along the lines of this debate.
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- 1992
24. Multimarket competition: theory and evidence
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Witteloostuijn, Arjen van and Wegberg, Marc van
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Competition (Economics) -- Analysis ,Business-to-business market -- Market share ,Business ,Economics - Abstract
Multimarket modeling is used to analyze strategies for actual entry and preventing entry into a market. Five factors in the model are focus of rivalry, resource economizing entry, multimarket spillovers, one-sided and reciprocal entry and multimarket collusion. It was found that successful strategies required an understanding of feedback from the entry market to the home market and vice versa.
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- 1992
25. Early feeding practices in infants with phenylketonuria across Europe
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Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Wegberg, A.M.J. van, Zuvadelli, J., MacDonald, A., Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Wegberg, A.M.J. van, Zuvadelli, J., and MacDonald, A.
- Abstract
Contains fulltext : 195652.pdf (publisher's version ) (Open Access), Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. Methods: We sent a cross sectional, survey monkey(R) questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. Results: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6months.53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n=35/95), whereas 44% (n=42/95) advised mixing both formulas together. Weaning commenced between 17 and 26weeks in 85% centres, >/=26weeks in 12% and<17weeks in 3%. Discussion: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding developme
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- 2018
26. Can untreated PKU patients escape from intellectual disability? A systematic review
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Vliet, D. van der, Wegberg, A.M.J. van, Ahring, K., Bik-Multanowski, M., Blau, N., Bulut, F.D., Casas, K., Didycz, B., Djordjevic, M., Federico, A., Feillet, F., Gizewska, M., Gramer, G., Hertecant, J.L., Hollak, C.E., Jorgensen, J.V., Karall, D., Landau, Y., Leuzzi, V., Mathisen, P., Moseley, K., Mungan, N.O., Nardecchia, F., Ounap, K., Powell, K.K., Ramachandran, R., Rutsch, F., Setoodeh, A., Stojiljkovic, M., Trefz, F.K., Usurelu, N., Wilson, C., Karnebeek, C.D. van, Hanley, W.B., Spronsen, F.J. van, Vliet, D. van der, Wegberg, A.M.J. van, Ahring, K., Bik-Multanowski, M., Blau, N., Bulut, F.D., Casas, K., Didycz, B., Djordjevic, M., Federico, A., Feillet, F., Gizewska, M., Gramer, G., Hertecant, J.L., Hollak, C.E., Jorgensen, J.V., Karall, D., Landau, Y., Leuzzi, V., Mathisen, P., Moseley, K., Mungan, N.O., Nardecchia, F., Ounap, K., Powell, K.K., Ramachandran, R., Rutsch, F., Setoodeh, A., Stojiljkovic, M., Trefz, F.K., Usurelu, N., Wilson, C., Karnebeek, C.D. van, Hanley, W.B., and Spronsen, F.J. van
- Abstract
Contains fulltext : 195728.pdf (publisher's version ) (Open Access), BACKGROUND: Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability. The present study aimed to review published cases of such PKU patients. METHODS: To this purpose, we conducted a literature search in PubMed and EMBASE up to 8th of September 2017 to identify cases with 1) PKU diagnosis and start of treatment after 7 years of age; 2) untreated plasma phenylalanine concentrations >/=1200 mumol/l; and 3) IQ >/=80. Literature search, checking reference lists, selection of articles, and extraction of data were performed by two independent researchers. RESULTS: In total, we identified 59 published cases of patients with late-diagnosed PKU and unexpected favorable outcome who met the inclusion criteria. Although all investigated patients had intellectual functioning within the normal range, at least 19 showed other neurological, psychological, and/or behavioral symptoms. CONCLUSIONS: Based on the present findings, the classical symptomatology of untreated or late-treated PKU may need to be rewritten, not only in the sense that intellectual dysfunction is not obligatory, but also in the sense that intellectual functioning does not (re)present the full picture of brain damage due to high plasma phenylalanine concentrations. Further identification of such patients and additional analyses are necessary to better understand these differences between PKU patients.
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- 2018
27. Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra
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Vaclavik, Jan, Coene, K.L.M., Vrobel, Ivo, Najdekr, Lukas, Friedecky, David, Karlikova, Radana, Engelke, U.F.H., Wegberg, A.M.J. van, Kluijtmans, L.A.J., Adam, T., Wevers, R.A., Vaclavik, Jan, Coene, K.L.M., Vrobel, Ivo, Najdekr, Lukas, Friedecky, David, Karlikova, Radana, Engelke, U.F.H., Wegberg, A.M.J. van, Kluijtmans, L.A.J., Adam, T., and Wevers, R.A.
- Abstract
Item does not contain fulltext
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- 2018
28. Anthropomorphic measurements and nutritional biomarkers after 5 years of BH4 treatment in phenylketonuria patients
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Evers, Roeland A.F., Wegberg, A.M.J. van, Dam, Esther van, Vries, M.C. de, Janssen, M.C.H., Spronsen, Francjan J. van, Evers, Roeland A.F., Wegberg, A.M.J. van, Dam, Esther van, Vries, M.C. de, Janssen, M.C.H., and Spronsen, Francjan J. van
- Abstract
Item does not contain fulltext
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- 2018
29. Dietary practices in isovaleric acidemia: A European survey
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Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Verge, S. Le, Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, Dam, E. van, Hurk, T. van den, Ploeg, L. van der, Driessche, M. Van, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H.E., Macdonald, A., Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Verge, S. Le, Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, Dam, E. van, Hurk, T. van den, Ploeg, L. van der, Driessche, M. Van, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H.E., and Macdonald, A.
- Abstract
Contains fulltext : 169955.pdf (publisher's version ) (Open Access), BACKGROUND: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA. RESULTS: Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed. CONCLUSIONS: This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.
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- 2017
30. Dietary practices in propionic acidemia: A European survey
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Daly, A., Pinto, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Janssen-Regelink, R.G., Rijn, M. Van, Wegberg, A.M.J. van, Zweers, H.E., Macdonald, A., Daly, A., Pinto, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Janssen-Regelink, R.G., Rijn, M. Van, Wegberg, A.M.J. van, Zweers, H.E., and Macdonald, A.
- Abstract
Contains fulltext : 181525.pdf (publisher's version ) (Open Access)
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- 2017
31. Key European guidelines for the diagnosis and management of patients with phenylketonuria
- Author
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Spronsen, F.J. van, Wegberg, A.M.J. van, Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A.M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S.C.J., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A.C., Trefz, F.K., Rijn, M. van de, Walter, J.H., Macdonald, A., Spronsen, F.J. van, Wegberg, A.M.J. van, Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A.M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S.C.J., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A.C., Trefz, F.K., Rijn, M. van de, Walter, J.H., and Macdonald, A.
- Abstract
Item does not contain fulltext, We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search, critical appraisal, and evidence grading according to the Scottish Intercollegiate Guidelines Network method. We used the Delphi method when little or no evidence was available. From the 70 recommendations formulated, in this Review we describe ten that we deem as having the highest priority. Diet is the cornerstone of treatment, although some patients can benefit from tetrahydrobiopterin (BH4). Untreated blood phenylalanine concentrations determine management of people with PKU. No intervention is required if the blood phenylalanine concentration is less than 360 mumol/L. Treatment is recommended up to the age of 12 years if the phenylalanine blood concentration is between 360 mumol/L and 600 mumol/L, and lifelong treatment is recommended if the concentration is more than 600 mumol/L. For women trying to conceive and during pregnancy (maternal PKU), untreated phenylalanine blood concentrations of more than 360 mumol/L need to be reduced. Treatment target concentrations are as follows: 120-360 mumol/L for individuals aged 0-12 years and for maternal PKU, and 120-600 mumol/L for non-pregnant individuals older than 12 years. Minimum requirements for the management and follow-up of patients with PKU are scheduled according to age, adherence to treatment, and clinical status. Nutritional, clinical, and biochemical follow-up is necessary for all patients, regardless of therapy.
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- 2017
32. Issues with European guidelines for phenylketonuria - Authors' reply
- Author
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Spronsen, F.J. van, Wegberg, A.M.J. van, Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A.M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S.C.J., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A.C., Trefz, F.K., Rijn, M. van de, Macdonald, A., Spronsen, F.J. van, Wegberg, A.M.J. van, Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A.M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S.C.J., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A.C., Trefz, F.K., Rijn, M. van de, and Macdonald, A.
- Abstract
Item does not contain fulltext
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- 2017
33. The complete European guidelines on phenylketonuria: diagnosis and treatment
- Author
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Wegberg, A.M.J. van, Macdonald, A., Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A.M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S.C.J., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A.C., Rijn, M. van de, Trefz, F., Walter, J.H., Spronsen, F.J. van, Wegberg, A.M.J. van, Macdonald, A., Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A.M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S.C.J., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A.C., Rijn, M. van de, Trefz, F., Walter, J.H., and Spronsen, F.J. van
- Abstract
Contains fulltext : 182674.pdf (publisher's version ) (Open Access), Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.
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- 2017
34. Dietary practices in methylmalonic acidaemia: a European survey
- Author
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Pinto, Alex, Evans, Sharon, Daly, Anne, Almeida, Manuela Ferreira, Assoun, Murielle, Belanger-Quintana, Amaya, Bernabei, Silvia Maria, Bollhalder, Sandra, Cassiman, David, Champion, Helena, Chan, Heidi, Corthouts, Karen, Dalmau, Jaime, Boer, Foekje de, Laet, Corinne De, Meyer, An de, Desloovere, An, Dianin, Alice, Dixon, Marjorie, Dokoupil, Katharina, Dubois, Sandrine, Eyskens, Francois, Faria, Ana, Fasan, Ilaria, Favre, Elisabeth, Feillet, François, Fekete, Anna, Gallo, Giorgia, Gingell, Cerys, Gribben, Joanna, Hansen, Kit Kaalund, Horst, Nienke Ter, Jankowski, Camille, Janssen-Regelink, Renske, Jones, Ilana, Jouault, Catherine, Kahrs, Gudrun Elise, Kok, Irene, Kowalik, Agnieszka, Laguerre, Catherine, Verge, Sandrine Le, Liguori, Alessandra, Lilje, Rina, Maddalon, Cornelia, Mayr, Doris, Meyer, Uta, Micciche, Avril, Och, Ulrike, Robert, Martine, Rocha, Júlio César, Rogozinski, Hazel, Rohde, Carmen, Ross, Kathleen, Saruggia, Isabelle, Schlune, Andrea, Singleton, Kath, Sjoqvist, Elisabeth, Skeath, Rachel, Stolen, Linn Helene, Terry, Allyson, Timmer, Corrie, Tomlinson, Lyndsey, Tooke, Alison, Kerckhove, Kristel Vande, van Dam, Esther, Hurk, Dorine van den, Ploeg, Liesbeth van der, van Driessche, Marleen, van Rijn, Margreet, Wegberg, Annemiek van, Vasconcelos, Carla, Vestergaard, Helle, Vitoria, Isidro, Webster, Diana, White, Fiona, White, Lucy, Zweers, Heidi, and MacDonald, Anita
- Published
- 2020
- Full Text
- View/download PDF
35. Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach
- Author
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Aguiar, A., Ahring, K., Almeida, M.F., Assoun, M., Belanger Quintana, A., Bigot, S., Bihet, G., Malmberg, K., Burlina, A., Bushueva, T., Caris, A., Chan, H., Clark, A., Clark, S., Cochrane, B., Corthouts, K., Dalmau, J., Dassy, M., Meyer, A, Didycz, B., Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Gizewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jonkers, C., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A.M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., Macdonald, A., Meyer, U., Moor, D., Pal, A., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Ross, K., Saruhan, S., Sjoqvist, E., Skeath, R., Stoelen, L., Horst, N.M. Ter, Terry, A., Timmer, C., Tuncer, N., Kerckhove, K. Vande, Ploeg, L. van der, Rijn, M. van de, Spronsen, F.J. van, Teeffelen-Heithoff, A. van, Wegberg, A. van, Wyk, K. van, Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F.J., Zweers, H.E., Aguiar, A., Ahring, K., Almeida, M.F., Assoun, M., Belanger Quintana, A., Bigot, S., Bihet, G., Malmberg, K., Burlina, A., Bushueva, T., Caris, A., Chan, H., Clark, A., Clark, S., Cochrane, B., Corthouts, K., Dalmau, J., Dassy, M., Meyer, A, Didycz, B., Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Gizewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jonkers, C., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A.M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., Macdonald, A., Meyer, U., Moor, D., Pal, A., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Ross, K., Saruhan, S., Sjoqvist, E., Skeath, R., Stoelen, L., Horst, N.M. Ter, Terry, A., Timmer, C., Tuncer, N., Kerckhove, K. Vande, Ploeg, L. van der, Rijn, M. van de, Spronsen, F.J. van, Teeffelen-Heithoff, A. van, Wegberg, A. van, Wyk, K. van, Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F.J., and Zweers, H.E.
- Abstract
Item does not contain fulltext, BACKGROUND: There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics. RESULTS: The amount of total protein (from PS and natural/intact protein) varied according to the European region. Higher median amounts of total protein were prescribed in infants and children in Northern Europe (n=24 centres) (infants <1 year, >2-3g/kg/day; 1-3 years of age, >2-3 g/kg/day; 4-10 years of age, >1.5-2.5 g/kg/day) and Southern Europe (n=10 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, 2 g/kg/day; 4-10 years of age, 1.5-2 g/kg/day), than by Eastern Europe (n=4 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, >2-2.5 g/kg/day; 4-10 years of age, >1.5-2 g/kg/day) and with Western Europe (n=25 centres) giving the least (infants <1 year, >2-2.5 g/kg/day, 1-3 years of age, 1.5-2 g/kg/day; 4-10 years of age, 1-1.5 g/kg/day). Total protein prescription was similar in patients aged >10 years (1-1.5 g/kg/day) and maternal patients (1-1.5 g/kg/day). CONCLUSIONS: The amounts of total protein prescribed varied between European countries and appeared to be influenced by geographical region. In PKU, all gave higher than the recommended 2007 WHO/FAO/UNU safe levels of protein intake for the general population.
- Published
- 2015
36. Gevaar VoIP voor telecomsector overdreven
- Author
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Deventer, M.O. van, Wegberg, M. van, and TNO Informatie en Communicatietechnologie
- Subjects
Informatics - Abstract
Het is een hype Voice-over-IP (VoIP) voor te stellen als een ontwrichtende technologie die de telecomindustrie ingrijpend zal veranderen. Maar hoe ontwrichtend is VoIP eigenlijk? Oskar van Deventer en Marc van Wegberg analyseren drie vormen van VoIP en laten zien dat alleen ‘VoIP-chat’ potentieel een bedreiging is voor telefoniebedrijven.
- Published
- 2004
37. The grand coalition versus competing coalitions: trade-offs in how to standardize
- Author
-
Wegberg Marc van
- Subjects
TheoryofComputation_GENERAL ,Economics - Abstract
The standardization landscape in the Information and Communication technology industries is fragmented in many different standardization bodies, industry consortia, and alliances. Some of these coalitions cooperate with each other, while others compete. The existence of competing standardization coalitions may prevent coordination on a common standard. There is a lot of debate among practitioners and analysts about whether this fragmentation creates a coordination failure. This paper takes a middle ground in this debate. Competition between standardization coalitions may indeed harm compatibility, but it also helps to mitigate coordination failures within standardization bodies and coalitions. The negotiation process in a coalition can cause coordination failures of its own. An important failure is lack of timeliness, due to delaying tactics by company delegates in the coalition. Introducing competition between coalitions can speed up negotiations within them, and thus help to overcome this intracommittee coordination failure. A game theoretic model explores the effect of competition between coalitions on the speed of decision-making and standardization.
- Published
- 2003
38. A note on network structure: functional relationships between network indicators
- Author
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Wegberg Marc van
- Subjects
Economics - Abstract
Two important aspects of network structure are network density and network centrality. These two aspects highlight different characteristics of a network. Empirical studies tend to find that one or the other is the better explanatory variable for certain aspects of corporate behaviour. This note makes a simple and compelling point. There is a hill-shaped relationship between network density and network centrality. A purely stochastic process of alliance formation will lead to a hill-shaped relationship. A mathematical, functional relationship can be shown between network density and the upper bound to network centrality. The combination of these outcomes sets lower and upper bounds on network centrality. This approach can offer a vantage point for an evolutionary study of network structure.
- Published
- 2003
39. Dietary management of urea cycle disorders: European practice.
- Author
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Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R.G., Jouault, C., Laguerre, C., Verge, S. Le, Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., nde Kerckhove, K. Va, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M.J. van, Wyk, K. van, Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., Zweers, H., Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R.G., Jouault, C., Laguerre, C., Verge, S. Le, Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., nde Kerckhove, K. Va, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M.J. van, Wyk, K. van, Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., and Zweers, H.
- Abstract
1 december 2013, Item does not contain fulltext, BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported. The majority of patients (70%; n=327) were aged 0-16y and 30% (n=137) >16y. Prescribed median protein intake/kg body weight decreased with age with little variation between disorders. The UK tended to give more total protein than other European countries particularly in infancy. Supplements of essential amino acids (EAA) were prescribed for 38% [n=174] of the patients overall, but were given more commonly in arginase deficiency (74%), CPS (48%) and citrullinaemia (46%). Patients in Germany (64%), Portugal (67%) and Sweden (100%) were the most frequent users of EAA. Only 18% [n=84] of patients were prescribed tube feeds, most commonly for CPS (41%); and 21% [n=97] were prescribed oral energy supplements. CONCLUSIONS: Dietary treatment for UCD varies significantly between different conditions, and between and within European IMD centres. Further studies examining the outcome of treatment compared with the type of dietary therapy and nutritional support received are required.
- Published
- 2013
40. Competing communities of users and developers of computer software: competition between open source software and commercial software
- Author
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Wegberg,M.,van and Berends,P.
- Subjects
management and organization theory - Abstract
The open source movement is a group of volunteer programmers that has recently caused quite a stir in the software market. The volunteers of this group develop computer operating systems, programming languages, and other software. They work together in teams that communicate via the Internet. Their goal is to develop useful software that is available for free and that users can change at will. To enable users to change and improve the software, they distribute their software not only in compiled form (that a computer needs to actually run the software), but also in its source code (the lines of code that programmers write). This cooperation breaks through the usual barriers that separate corporate suppliers from their buyers. This may represent the first example where the Internet enables cooperation on a scale that changes market dynamics. This paper studies the interaction between the network dynamics of the open source movement and the dynamics of a commercial software supplier. It makes our first step in identifying conditions that support a successful development of open source software. We focus on one particular set of projects within the open source movement, namely the Linux computer operating system.
- Published
- 2000
41. Mergers and alliances in the multimedia market
- Author
-
Wegberg M. van
- Subjects
industrial organization - Abstract
In the multimedia market, mergers and alliances are alternative ways to coordinate decision making about, especially, technology policies. Salient characteristics of multimedia explain why the amount of mergers and alliances rose during the 1990s. They may also effect the choice by firms among coordination forms, e.g., between merger and an alliance. The paper points to the implications of convergence, shorter product life cycles, and standardization.
- Published
- 1995
42. Architectural battles in the multimedia market
- Author
-
Wegberg Marc van
- Subjects
industrial organization - Abstract
Competition in the emerging multimedia market currently focuses on setting standards for storing, retrieving, processing, (de)compressing, and transmitting information. Each multimedia system or architecture combines several standards, some proprietary. This paper uses selected insights from industrial economics to analyze the strengths and weaknesses of the architectural companies by means of some hypotheses. These may guide further research.
- Published
- 1995
43. Can R&D alliances facilitate the formation of a cartel? The example of the European IT industry
- Author
-
Wegberg,M.,van
- Subjects
research and development - Abstract
Firms may coordinate their R&D decisions by a merger or an R&D alliance. The European Union stimulates R&D alliances. It expects that these stimulate R&D investments, and guarantee that the cooperating firms compete in the product market. The alliances may, however, stimulate firms to collude in the product market. Alliances then point to emerging cartels. The paper explores the conditions where this fear holds.
- Published
- 1995
44. Palliative In-Patient Cancer Treatment in an Anthroposophic Hospital: II. Quality of Life during and after Stationary Treatment, and Subjective Treatment Benefits*
- Author
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Heusser, Peter, primary, Braun, Sarah Berger, additional, Bertschy, Manuel, additional, Burkhard, René, additional, Ziegler, Renatus, additional, Helwig, Silke, additional, Wegberg, Brigitte van, additional, and Cerny, Thomas, additional
- Published
- 2006
- Full Text
- View/download PDF
45. Palliative In-Patient Cancer Treatment in an Anthroposophic Hospital: I. Treatment Patterns and Compliance with Anthroposophic Medicine*.
- Author
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Heusser, P., Braun, S., Ziegler, R., Bertschy, M., Helwig, S., Wegberg, B. van, and Cerny, T.
- Published
- 2006
- Full Text
- View/download PDF
46. Additional file 1: of Can untreated PKU patients escape from intellectual disability? A systematic review
- Author
-
Danique Van Vliet, Wegberg, Annemiek Van, Ahring, Kirsten, Miroslaw Bik-Multanowski, Blau, Nenad, Bulut, Fatma, Casas, Kari, Bozena Didycz, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef, Hollak, Carla, Jørgensen, Jens, Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan, Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly, Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz, Usurelu, Natalia, Wilson, Callum, Karnebeek, Clara Van, Hanley, William, and Francjan Van Spronsen
- Subjects
3. Good health - Abstract
Table S1. Reported and previously unreported cases of late-diagnosed (> 7 years) PKU patients who have escaped from intellectual disability despite high plasma Phe concentrations. (DOCX 52 kb)
47. Additional file 1: of Can untreated PKU patients escape from intellectual disability? A systematic review
- Author
-
Danique Van Vliet, Wegberg, Annemiek Van, Ahring, Kirsten, Miroslaw Bik-Multanowski, Blau, Nenad, Bulut, Fatma, Casas, Kari, Bozena Didycz, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef, Hollak, Carla, Jørgensen, Jens, Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan, Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly, Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz, Usurelu, Natalia, Wilson, Callum, Karnebeek, Clara Van, Hanley, William, and Francjan Van Spronsen
- Subjects
3. Good health - Abstract
Table S1. Reported and previously unreported cases of late-diagnosed (> 7 years) PKU patients who have escaped from intellectual disability despite high plasma Phe concentrations. (DOCX 52 kb)
48. Trust Attitudes, Network Tightness and Organizational Survival: An Integrative Framework and Simulation Model
- Author
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Witteloostuijn, Arjen van, primary and Wegberg, Marc van, additional
- Full Text
- View/download PDF
49. To what extent do aspects of sustainability impact established firms' resilience: A comparative case study of the luxury watchmaking industry in Switzerland
- Author
-
Werner, Hannah, Wegberg, Marc Van, and Cunha, Miguel Pina e
- Subjects
Ciências Sociais::Economia e Gestão [Domínio/Área Científica] - Abstract
An organizations´ level of sustainability has so far been primarily been analyzed within the context of economic performance. This study changes that dependent variable to “resilience”, namely a company’s ability to recover from potential lethal shocks or disruptive events. The research questions aims to investigate whether sustainability and resilience are related. This study utilizes the financial crisis from 2007/08 as disruptive event, as it encompassed market phase-out but also survival by established firms. Two Swiss luxury watchmaking companies have been chosen as industry sample and the study’s investigation is based on a comparative case study approach. The latter applies both quantitative data, in the form of the respective annual company reports, and qualitative data, in the form of semi-structured interviews with three stakeholder groups. Findings indicate that the investigated measures of sustainability are related the investigated companies’ level of resilience. These findings contribute to the building of new theory towards resilience as this study outlines specifically which measures have been proven to be of relevance for companies’ resilience. Moreover, the results are of high relevance for companies that are operating in constant evolving markets and struggling adapting to any disruptive environment as it is outlined why and how comparative companies have to be sustainable in order to become more resilient towards future shocks.
- Published
- 2015
50. The effect of social and environmental sustainability on firm resilience: a comparative case study on the Norwegian airline industry
- Author
-
Andersen, Cathrine, Story, Joana, and Wegberg, Marc Van
- Subjects
Ciências Sociais::Economia e Gestão [Domínio/Área Científica] - Abstract
Double degree How does sustainability affect an airline’s resilience in increasingly turbulent environments? This study develops a theory of four variables linking sustainability and resilience. The research is conducted through a comparative case study on two players in the Norwegian airline industry, Norwegian Air Shuttle ASA and Scandinavian Airlines AB. The research found that sustainability can lead to resilience through environmental-, stakeholder-, innovation- and cost orientation. The airlines covered in this study that engage in sustainability through these four variables were more resilient to shocks and disruptions.
- Published
- 2015
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