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32 results on '"Janssen, Mirian C. H."'

1. Multi-omics in classical galactosemia:Evidence for the involvement of multiple metabolic pathways

Author

Hermans, Merel E., van Weeghel, Michel, Vaz, Frederic M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., van Kuilenburg, Andre B. P., Pras-Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink-Karssies, Mendy M., Bosch, Annet M., Hermans, Merel E., van Weeghel, Michel, Vaz, Frederic M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., van Kuilenburg, Andre B. P., Pras-Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink-Karssies, Mendy M., and Bosch, Annet M.

Abstract

Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approximately 1:40.000 people. Despite a life-saving galactose-restricted diet, patients develop highly variable long-term complications including intellectual disability and movement disorders. The pathophysiology of these complications is still poorly understood and development of new therapies is hampered by a lack of valid prognostic biomarkers. Multi-omics approaches may discover new biomarkers and improve prediction of patient outcome. In the current study, (semi-)targeted mass-spectrometry based metabolomics and lipidomics were performed in erythrocytes of 40 patients with both classical and variant phenotypes and 39 controls. Lipidomics did not show any significant changes or deficiencies. The metabolomics analysis revealed that CG does not only compromise the Leloir pathway, but also involves other metabolic pathways including glycolysis, the pentose phosphate pathway, and nucleotide metabolism in the erythrocyte. Moreover, the energy status of the cell appears to be compromised, with significantly decreased levels of ATP and ADP. This possibly is the consequence of two different mechanisms: impaired formation of ATP from ADP possibly due to reduced flux though the glycolytic pathway and trapping of phosphate in galactose-1-phosphate (Gal-1P) which accumulates in CG. Our findings are in line with the current notion that the accumulation of Gal-1P plays a key role in the pathophysiology of CG not only by depletion of intracellular phosphate levels but also by decreasing metabolite abundance downstream in the glycolytic pathway and affecting other pathways. New therapeutic options for CG could be directed towards the restoration of intracellular phosphate homeostasis.

Published
2022

2. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

Author

Welsink-Karssies, Mendy M., Ferinandusse, Sacha, Geurtsen, Gert J, Hollak, Carla E M, Huidekoper, Hidde H, Janssen, Mirian C H, Langendonk, Janneke G, van der Lee, Johanna H, O'Flaherty, Roisin, Oostrom, Kim J, Roosendaal, Stefan, Rubio-Gozalbo, M. Estela, Saldova, Radka, Treacy, Eileen P, Vaz, Fred M, de Vries, Maaike C, Engelen, Marc, Bosch, Annet M, Welsink-Karssies, Mendy M., Ferinandusse, Sacha, Geurtsen, Gert J, Hollak, Carla E M, Huidekoper, Hidde H, Janssen, Mirian C H, Langendonk, Janneke G, van der Lee, Johanna H, O'Flaherty, Roisin, Oostrom, Kim J, Roosendaal, Stefan, Rubio-Gozalbo, M. Estela, Saldova, Radka, Treacy, Eileen P, Vaz, Fred M, de Vries, Maaike C, Engelen, Marc, and Bosch, Annet M

Abstract

Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, and there is an urgent need for prognostic biomarkers. The aim of this study was first to increase knowledge on the natural history of classical galactosemia by studying a cohort of patients with varying geno- and phenotypes and second to study the association between clinical outcomes and two possible prognostic biomarkers. In addition, the association between abnormalities on brain MRI and clinical outcomes was investigated. Classical galactosemia patients visiting the galactosemia expertise outpatient clinic of the Amsterdam University Medical Centre were evaluated according to the International Classical Galactosemia guideline with the addition of an examination by a neurologist, serum immunoglobulin G N-glycan profiling and a brain MRI. The biomarkers of interest were galactose-1-phosphate levels and N-glycan profiles, and the clinical outcomes studied were intellectual outcome and the presence or absence of movement disorders and/or primary ovarian insufficiency. Data of 56 classical galactosemia patients are reported. The intellectual outcome ranged from 45 to 103 (mean 77 6 14) and was <85 in 62%. Movement disorders were found in 17 (47%) of the 36 tested patients. In females aged 12 years and older, primary ovarian insufficiency was diagnosed in 12 (71%) of the 17 patients. Significant differences in N-glycan peaks were found between controls and patients. However, no significant differences in either N-glycans or galactose-1-phosphate levels were found between patients with a poor (intellectual outcome < 85) and normal intellectual outcome (intellectual outcome 85), and with or without movement disorders or primary ovarian insufficiency. The variant patients detected by newborn screening, with previously unknown geno- and phenotypes and currently

Published
2020

3. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

Author

Welsink-Karssies, Mendy M., Ferinandusse, Sacha, Geurtsen, Gert J, Hollak, Carla E M, Huidekoper, Hidde H, Janssen, Mirian C H, Langendonk, Janneke G, van der Lee, Johanna H, O'Flaherty, Roisin, Oostrom, Kim J, Roosendaal, Stefan, Rubio-Gozalbo, M. Estela, Saldova, Radka, Treacy, Eileen P, Vaz, Fred M, de Vries, Maaike C, Engelen, Marc, Bosch, Annet M, Welsink-Karssies, Mendy M., Ferinandusse, Sacha, Geurtsen, Gert J, Hollak, Carla E M, Huidekoper, Hidde H, Janssen, Mirian C H, Langendonk, Janneke G, van der Lee, Johanna H, O'Flaherty, Roisin, Oostrom, Kim J, Roosendaal, Stefan, Rubio-Gozalbo, M. Estela, Saldova, Radka, Treacy, Eileen P, Vaz, Fred M, de Vries, Maaike C, Engelen, Marc, and Bosch, Annet M

Abstract

Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, and there is an urgent need for prognostic biomarkers. The aim of this study was first to increase knowledge on the natural history of classical galactosemia by studying a cohort of patients with varying geno- and phenotypes and second to study the association between clinical outcomes and two possible prognostic biomarkers. In addition, the association between abnormalities on brain MRI and clinical outcomes was investigated. Classical galactosemia patients visiting the galactosemia expertise outpatient clinic of the Amsterdam University Medical Centre were evaluated according to the International Classical Galactosemia guideline with the addition of an examination by a neurologist, serum immunoglobulin G N-glycan profiling and a brain MRI. The biomarkers of interest were galactose-1-phosphate levels and N-glycan profiles, and the clinical outcomes studied were intellectual outcome and the presence or absence of movement disorders and/or primary ovarian insufficiency. Data of 56 classical galactosemia patients are reported. The intellectual outcome ranged from 45 to 103 (mean 77 6 14) and was <85 in 62%. Movement disorders were found in 17 (47%) of the 36 tested patients. In females aged 12 years and older, primary ovarian insufficiency was diagnosed in 12 (71%) of the 17 patients. Significant differences in N-glycan peaks were found between controls and patients. However, no significant differences in either N-glycans or galactose-1-phosphate levels were found between patients with a poor (intellectual outcome < 85) and normal intellectual outcome (intellectual outcome 85), and with or without movement disorders or primary ovarian insufficiency. The variant patients detected by newborn screening, with previously unknown geno- and phenotypes and currently

Published
2020

4. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Author

UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de neurologie pédiatrique, Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, EHOD consortium, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco-Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A, Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana Maria, Gautschi, Matthias, González-Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C H, Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M, Martins, Esmeralda G, Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stéphanie, Pedrón-Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl-Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld-Adams, James, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de neurologie pédiatrique, Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, EHOD consortium, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco-Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A, Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana Maria, Gautschi, Matthias, González-Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C H, Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M, Martins, Esmeralda G, Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stéphanie, Pedrón-Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl-Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, and Weisfeld-Adams, James

Abstract

AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. CONCLUSION: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design.

Published
2019

5. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Author

Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., Van Spronsen, Francjan J., Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., and Van Spronsen, Francjan J.

Published
2018

6. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Author

Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., Van Spronsen, Francjan J., Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., and Van Spronsen, Francjan J.

Published
2018

7. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Author

Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., Van Spronsen, Francjan J., Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., and Van Spronsen, Francjan J.

Published
2018

8. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Author

DT Papegaai, Child Health, Algemeen management, Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., Van Spronsen, Francjan J., DT Papegaai, Child Health, Algemeen management, Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., and Van Spronsen, Francjan J.

Published
2018

9. Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Author

Abu Bakar, Nurulamin, Voermans, Nicol C, Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C H, Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, MØrkrid, Lars, Vissing, John, Morava, Eva, van Scherpenzeel, Monique, Lefeber, Dirk J, Abu Bakar, Nurulamin, Voermans, Nicol C, Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C H, Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, MØrkrid, Lars, Vissing, John, Morava, Eva, van Scherpenzeel, Monique, and Lefeber, Dirk J

Abstract

Phosphoglucomutase 1 (PGM1) deficiency results in a mixed phenotype of a Glycogen Storage Disorder and a Congenital Disorder of Glycosylation (CDG). Screening for abnormal glycosylation has identified more than 40 patients, manifesting with a broad clinical and biochemical spectrum which complicates diagnosis. Together with the availability of D-galactose as dietary therapy, there is an urgent need for specific glycomarkers for early diagnosis and treatment monitoring. We performed glycomics profiling by high-resolution QTOF mass spectrometry in a series of 19 PGM1-CDG patients, covering a broad range of biochemical and clinical severity. Bioinformatics and statistical analysis were used to select glycomarkers for diagnostics and define glycan-indexes for treatment monitoring. Using 3 transferrin glycobiomarkers, all PGM1-CDG patients were diagnosed with 100% specificity and sensitivity. Total plasma glycoprofiling showed an increase in high mannose glycans and fucosylation, while global galactosylation and sialylation were severely decreased. For treatment monitoring, we defined 3 glycan-indexes, reflecting normal glycosylation, a lack of complete glycans (LOCGI) and of galactose residues (LOGI). These indexes showed improved glycosylation upon D-galactose treatment with a fast and near-normalization of the galactose index (LOGI) in 6 out of 8 patients and a slower normalization of the LOCGI in all patients. Total plasma glycoprofiling showed improvement of the global high mannose glycans, fucosylation, sialylation, and galactosylation status on D-galactose treatment. Our study indicates specific glycomarkers for diagnosis of mildly and severely affected PGM1-CDG patients, and to monitor the glycan-specific effects of D-galactose therapy.

Published
2018

10. Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Author

Abu Bakar, Nurulamin, Voermans, Nicol C, Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C H, Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, MØrkrid, Lars, Vissing, John, Morava, Eva, van Scherpenzeel, Monique, Lefeber, Dirk J, Abu Bakar, Nurulamin, Voermans, Nicol C, Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C H, Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, MØrkrid, Lars, Vissing, John, Morava, Eva, van Scherpenzeel, Monique, and Lefeber, Dirk J

Abstract

Phosphoglucomutase 1 (PGM1) deficiency results in a mixed phenotype of a Glycogen Storage Disorder and a Congenital Disorder of Glycosylation (CDG). Screening for abnormal glycosylation has identified more than 40 patients, manifesting with a broad clinical and biochemical spectrum which complicates diagnosis. Together with the availability of D-galactose as dietary therapy, there is an urgent need for specific glycomarkers for early diagnosis and treatment monitoring. We performed glycomics profiling by high-resolution QTOF mass spectrometry in a series of 19 PGM1-CDG patients, covering a broad range of biochemical and clinical severity. Bioinformatics and statistical analysis were used to select glycomarkers for diagnostics and define glycan-indexes for treatment monitoring. Using 3 transferrin glycobiomarkers, all PGM1-CDG patients were diagnosed with 100% specificity and sensitivity. Total plasma glycoprofiling showed an increase in high mannose glycans and fucosylation, while global galactosylation and sialylation were severely decreased. For treatment monitoring, we defined 3 glycan-indexes, reflecting normal glycosylation, a lack of complete glycans (LOCGI) and of galactose residues (LOGI). These indexes showed improved glycosylation upon D-galactose treatment with a fast and near-normalization of the galactose index (LOGI) in 6 out of 8 patients and a slower normalization of the LOCGI in all patients. Total plasma glycoprofiling showed improvement of the global high mannose glycans, fucosylation, sialylation, and galactosylation status on D-galactose treatment. Our study indicates specific glycomarkers for diagnosis of mildly and severely affected PGM1-CDG patients, and to monitor the glycan-specific effects of D-galactose therapy.

Published
2018

11. Cognitive profile and mental health in adult phenylketonuria : A PKU-COBESO study

Author

Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J., Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and van Spronsen, Francjan J.

Published
2017

12. Cognitive profile and mental health in adult phenylketonuria : A PKU-COBESO study

Author

Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J., Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and van Spronsen, Francjan J.

Published
2017

13. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria : A PKU-COBESO Study

Author

Jahja, Rianne, van Spronsen, Francjan J., De Sonneville, Leo M J, van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., Jahja, Rianne, van Spronsen, Francjan J., De Sonneville, Leo M J, van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2017

14. Cognitive profile and mental health in adult phenylketonuria : A PKU-COBESO study

Author

Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J., Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and van Spronsen, Francjan J.

Published
2017

15. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria : A PKU-COBESO Study

Author

Jahja, Rianne, van Spronsen, Francjan J., De Sonneville, Leo M J, van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., Jahja, Rianne, van Spronsen, Francjan J., De Sonneville, Leo M J, van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2017

16. Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study

Author

DT Papegaai, Algemeen management, Child Health, Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J., DT Papegaai, Algemeen management, Child Health, Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and van Spronsen, Francjan J.

Published
2017

17. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Author

DT Papegaai, Algemeen management, Child Health, Jahja, Rianne, van Spronsen, Francjan J., De Sonneville, Leo M J, van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., DT Papegaai, Algemeen management, Child Health, Jahja, Rianne, van Spronsen, Francjan J., De Sonneville, Leo M J, van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2017

18. Iron refractory iron deficiency anemia : a heterogeneous disease that is not always iron refractory

Author

Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, Swinkels, Dorine W, Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, and Swinkels, Dorine W

Published
2016

19. Iron refractory iron deficiency anemia : a heterogeneous disease that is not always iron refractory

Author

Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, Swinkels, Dorine W, Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, and Swinkels, Dorine W

Published
2016

20. Social-cognitive functioning and social skills in patients with early treated phenylketonuria : a PKU-COBESO study

Author

Jahja, Rianne, van Spronsen, Francjan J, de Sonneville, Leo M J, van der Meere, Jaap J, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J, Hofstede, FC, de Vries, Maaike C, Janssen, Mirian C H, van der Ploeg, Ans T, Langendonk, Janneke G, Huijbregts, Stephan C J, Jahja, Rianne, van Spronsen, Francjan J, de Sonneville, Leo M J, van der Meere, Jaap J, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J, Hofstede, FC, de Vries, Maaike C, Janssen, Mirian C H, van der Ploeg, Ans T, Langendonk, Janneke G, and Huijbregts, Stephan C J

Published
2016

21. Social-cognitive functioning and social skills in patients with early treated phenylketonuria : a PKU-COBESO study

Author

Jahja, Rianne, van Spronsen, Francjan J, de Sonneville, Leo M J, van der Meere, Jaap J, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J, Hofstede, FC, de Vries, Maaike C, Janssen, Mirian C H, van der Ploeg, Ans T, Langendonk, Janneke G, Huijbregts, Stephan C J, Jahja, Rianne, van Spronsen, Francjan J, de Sonneville, Leo M J, van der Meere, Jaap J, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J, Hofstede, FC, de Vries, Maaike C, Janssen, Mirian C H, van der Ploeg, Ans T, Langendonk, Janneke G, and Huijbregts, Stephan C J

Published
2016

22. Iron refractory iron deficiency anemia : a heterogeneous disease that is not always iron refractory

Author

Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, Swinkels, Dorine W, Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, and Swinkels, Dorine W

Published
2016

23. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

Author

DT Papegaai, Child Health, Jahja, Rianne, van Spronsen, Francjan J, de Sonneville, Leo M J, van der Meere, Jaap J, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J, Hofstede, FC, de Vries, Maaike C, Janssen, Mirian C H, van der Ploeg, Ans T, Langendonk, Janneke G, Huijbregts, Stephan C J, DT Papegaai, Child Health, Jahja, Rianne, van Spronsen, Francjan J, de Sonneville, Leo M J, van der Meere, Jaap J, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J, Hofstede, FC, de Vries, Maaike C, Janssen, Mirian C H, van der Ploeg, Ans T, Langendonk, Janneke G, and Huijbregts, Stephan C J

Published
2016

24. Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory

Author

MS Dermatologie/Allergologie, Haematologie patientenzorg, Child Health, Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, Swinkels, Dorine W, MS Dermatologie/Allergologie, Haematologie patientenzorg, Child Health, Donker, Albertine E, Schaap, Charlotte C M, Novotny, Vera M J, Smeets, Roel, Peters, Tessa M A, van den Heuvel, Bert L P, Raphael, Martine F, Rijneveld, Anita W, Appel, Inge M, Vlot, Andre J, Versluijs, A Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C H, Rennings, Alexander J M, van de Veerdonk, Frank L, Brons, Paul P T, Bakkeren, Dirk L, Nijziel, Marten R, Vlasveld, L Thom, and Swinkels, Dorine W

Published
2016

25. Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Author

Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2015

26. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders

Author

Franik, Sebastian, Huidekoper, Hidde H., Visser, Gepke, de Vries, Maaike, de Boer, Lonneke, Hermans-Peters, Marion, Rodenburg, Richard, Verhaak, Chris, Vlieger, Arine M., Smeitink, Jan A M, Janssen, Mirian C H, Wortmann, Saskia B., Franik, Sebastian, Huidekoper, Hidde H., Visser, Gepke, de Vries, Maaike, de Boer, Lonneke, Hermans-Peters, Marion, Rodenburg, Richard, Verhaak, Chris, Vlieger, Arine M., Smeitink, Jan A M, Janssen, Mirian C H, and Wortmann, Saskia B.

Published
2015

27. Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Author

Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2015

28. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders

Author

Franik, Sebastian, Huidekoper, Hidde H., Visser, Gepke, de Vries, Maaike, de Boer, Lonneke, Hermans-Peters, Marion, Rodenburg, Richard, Verhaak, Chris, Vlieger, Arine M., Smeitink, Jan A M, Janssen, Mirian C H, Wortmann, Saskia B., Franik, Sebastian, Huidekoper, Hidde H., Visser, Gepke, de Vries, Maaike, de Boer, Lonneke, Hermans-Peters, Marion, Rodenburg, Richard, Verhaak, Chris, Vlieger, Arine M., Smeitink, Jan A M, Janssen, Mirian C H, and Wortmann, Saskia B.

Published
2015

29. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders

Author

Franik, Sebastian, Huidekoper, Hidde H., Visser, Gepke, de Vries, Maaike, de Boer, Lonneke, Hermans-Peters, Marion, Rodenburg, Richard, Verhaak, Chris, Vlieger, Arine M., Smeitink, Jan A M, Janssen, Mirian C H, Wortmann, Saskia B., Franik, Sebastian, Huidekoper, Hidde H., Visser, Gepke, de Vries, Maaike, de Boer, Lonneke, Hermans-Peters, Marion, Rodenburg, Richard, Verhaak, Chris, Vlieger, Arine M., Smeitink, Jan A M, Janssen, Mirian C H, and Wortmann, Saskia B.

Published
2015

30. Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Author

Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2015

31. Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Author

MDL patientenzorg, Child Health, Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., MDL patientenzorg, Child Health, Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2015

32. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders

Author

Metabole ziekten patientenzorg, Child Health, Franik, Sebastian, Huidekoper, Hidde H., Visser, Gepke, de Vries, Maaike, de Boer, Lonneke, Hermans-Peters, Marion, Rodenburg, Richard, Verhaak, Chris, Vlieger, Arine M., Smeitink, Jan A M, Janssen, Mirian C H, Wortmann, Saskia B., Metabole ziekten patientenzorg, Child Health, Franik, Sebastian, Huidekoper, Hidde H., Visser, Gepke, de Vries, Maaike, de Boer, Lonneke, Hermans-Peters, Marion, Rodenburg, Richard, Verhaak, Chris, Vlieger, Arine M., Smeitink, Jan A M, Janssen, Mirian C H, and Wortmann, Saskia B.

Published
2015

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