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11. Disorders of Autophagy

Author

Dionisi Vici, Carlo, Jungbluth, Heinz, Carsetti, Rita, van Karnebeek, Clara D. M., Blau, Nenad, editor, Dionisi Vici, Carlo, editor, Ferreira, Carlos R., editor, Vianey-Saban, Christine, editor, and van Karnebeek, Clara D. M., editor

Published
2022
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19. Designing eHealth interventions for children with complex care needs requires continuous stakeholder collaboration and co-creation

Author

Arts-assistenten Kinderen, Revalidatie Medisch Kinderen, van de Riet, Liz, Aris, Anna M., Verouden, Nick W., van Rooij, Tibor, van Woensel, Job B.M., van Karnebeek, Clara D., Alsem, Mattijs W., Arts-assistenten Kinderen, Revalidatie Medisch Kinderen, van de Riet, Liz, Aris, Anna M., Verouden, Nick W., van Rooij, Tibor, van Woensel, Job B.M., van Karnebeek, Clara D., and Alsem, Mattijs W.

Published
2024

20. CIAO1 and MMS19 de fi ciency : A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Author

van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, Rene, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drogemoller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R. J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michel A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frederic M., Wassermann, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, Andre B. P., van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, Rene, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drogemoller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R. J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michel A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frederic M., Wassermann, Wyeth W., Houtkooper, Riekelt H., and van Kuilenburg, Andre B. P.

Abstract

Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system. Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences. Results: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD, encoding dihydropyrimidine dehydrogenase. Genome sequencing identified compound heterozygosity in 2 patients for missense variants in CIAO1, encoding cytosolic iron-sulfur assembly component 1, and homozygosity for an in-frame 3-nucleotide deletion in MMS19, encoding the MMS19 homolog, cytosolic iron-sulfur assembly component, in the third patient. Profound alterations in the proteome, metabolome, and lipidome were observed in patient-derived fibroblasts. We confirmed the detrimental effect of deficiencies in CIAO1 and MMS19 in zebrafish models. Conclusion: A general failure of cytosolic and nuclear iron-sulfur protein maturation caused pleiotropic effects. The critical function of the cytosolic iron-sulfur protein assembly machinery for antiviral host defense may well explain the recurrent severe infections occurring in our patients. (c) 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2024
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23. Corrigendum to Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials. Contemp Clin Trials Commun. 36 (2023) Pages not provided/ DOI: 10.1016/j.conctc.2023.101233

Author

Hollander, Bibiche den, primary, Rothuizen-Lindenschot, Marieke, additional, Geertjens, Lisa, additional, Vaz, Frédéric M., additional, Brands, Marion M., additional, Le, Hoang Lan, additional, van Eeghen, Agnies M., additional, van de Ven, Peter M., additional, Cornel, Martina C., additional, Jacobs, Bart A.W., additional, Bruining, Hilgo, additional, and van Karnebeek, Clara D., additional

Published
2024
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29. A call for global action for rare diseases in Africa

Author

Baynam, Gareth S., Groft, Stephen, van der Westhuizen, Francois H., Gassman, Safiyya D., du Plessis, Kelly, Coles, Emily P., Selebatso, Eda, Selebatso, Moses, Gaobinelwe, Boikobo, Selebatso, Tebogo, Joel, Dipesalema, Llera, Virginia A., Vorster, Barend C., Wuebbels, Barbara, Djoudalbaye, Benjamin, Austin, Christopher P., Kumuthini, Judit, Forman, John, Kaufmann, Petra, Chipeta, James, Gavhed, Désirée, Larsson, Annika, Stojiljkovic, Maja, Nordgren, Ann, Roldan, Emilio J. A., Taruscio, Domenica, Wong-Rieger, Durhane, Nowak, Kristen, Bilkey, Gemma A., Easteal, Simon, Bowdin, Sarah, Reichardt, Juergen K. V., Beltran, Sergi, Kosaki, Kenjiro, van Karnebeek, Clara D. M., Gong, Mengchun, Shuyang, Zhang, Mehrian-Shai, Ruty, Adams, David R., Puri, Ratna D., Zhang, Feng, Pachter, Nicholas, Muenke, Maximilian, Nellaker, Christoffer, Gahl, William A., Cederroth, Helene, Broley, Stephanie, Schoonen, Maryke, Boycott, Kym M., and Posada, Manuel

Published
2020
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31. Atypical cerebral palsy: genomics analysis enables precision medicine

Author

Matthews, Allison M., Blydt-Hansen, Ingrid, Al-Jabri, Basmah, Andersen, John, Tarailo-Graovac, Maja, Price, Magda, Selby, Katherine, Demos, Michelle, Connolly, Mary, Drögemoller, Britt, Shyr, Casper, Mwenifumbo, Jill, Elliott, Alison M., Lee, Jessica, Ghani, Aisha, Stöckler, Sylvia, Salvarinova, Ramona, Vallance, Hilary, Sinclair, Graham, Ross, Colin J., Wasserman, Wyeth W., McKinnon, Margaret L., Horvath, Gabriella A., Goez, Helly, van Karnebeek, Clara D., and On behalf of TIDE BC, United for Metabolic Diseases and the CAUSES Study

Published
2019
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34. Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233]

Author

Hollander, Bibiche den, Rothuizen-Lindenschot, Marieke, Geertjens, Lisa, Vaz, Frédéric M., Brands, Marion M., Le, Hoang Lan, van Eeghen, Agnies M., van de Ven, Peter M., Cornel, Martina C., Jacobs, Bart A.W., Bruining, Hilgo, and van Karnebeek, Clara D.

Published
2024
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35. Oral sialic acid supplementation in NANS‐CDG: Results of a single center, open‐label, observational pilot study

Author

den Hollander, Bibiche, primary, Brands, Marion M., additional, de Boer, Lonneke, additional, Haaxma, Charlotte A., additional, Lengyel, Anna, additional, van Essen, Peter, additional, Peters, Gera, additional, Kwast, Hanneke J. T., additional, Klein, Willemijn M., additional, Coene, Karlien L. M., additional, Lefeber, Dirk J., additional, and van Karnebeek, Clara D. M., additional

Published
2023
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36. Response to Biesecker et al.

Author

Shen, Joseph J., Wortmann, Saskia B., Kluijtmans, Leo A. J., Collins, Christin D., van der Lee, Robin, van Karnebeek, Clara D. M., and Hegde, Madhuri R.

Published
2021
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38. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

Author

van Karnebeek, Clara D. M., Stockler-Ipsiroglu, Sylvia, Jaggumantri, Sravan, Assmann, Birgit, Baxter, Peter, Buhas, Daniela, Bok, Levinus A., Cheng, Barbara, Coughlin, Curtis R., II, Das, Anibh M., Giezen, Alette, Al-Hertani, Wahla, Ho, Gloria, Meyer, Uta, Mills, Philippa, Plecko, Barbara, Struys, Eduard, Ueda, Keiko, Albersen, Monique, Verhoeven, Nanda, Gospe, Sidney M., Jr., Gallagher, Renata C., Van Hove, Johan K. L., Hartmann, Hans, Zschocke, Johannes, Editor-in-chief, Gibson, K Michael, Editor-in-chief, Gibson, K. Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2015
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39. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

Author

Lausberg, Eva, Gieftelmann, Sebastian, Dewulf, Joseph P., Wiame, Elsa, Holz, Anja, Salvarinova, Ramona, van Karnebeek, Clara D., Klemm, Patricia, Ohl, Kim, Mull, Michael, and Braunschweig, Till

Subjects
Gene mutations -- Research, Genetic research, Inflammation -- Genetic aspects -- Causes of, Metabolism, Inborn errors of -- Genetic aspects -- Causes of, Mitochondrial diseases -- Genetic aspects -- Causes of, Autoimmune diseases -- Genetic aspects -- Causes of, Health care industry
Abstract

BACKGROUND. Deciphering the function of the many genes previously classified as uncharacterized open reading frame (ORF) would complete our understanding of a cell's function and its pathophysiology. METHODS. Whole-exome sequencing, yeast 2-hybrid and transcriptome analyses, and molecular characterization were performed in this study to uncover the function of the C2orf69 gene. RESULTS. We identified loss-of-function mutations in the uncharacterized C2orf69 gene in 8 individuals with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and recurrent autoinflammation. C2orf69 contains an N-terminal signal peptide that is required and sufficient for mitochondrial localization. Consistent with mitochondrial dysfunction, the patients showed signs of respiratory chain defects, and a CRISPR/Cas9-KO cell model of C2orf69 had similar respiratory chain defects. Patient-derived cells revealed alterations in immunological signaling pathways. Deposits of periodic acid-Schiff-positive (PAS-positive) material in tissues from affected individuals, together with decreased glycogen branching enzyme 1 (GBE1) activity, indicated an additional impact of C2orf69 on glycogen metabolism. CONCLUSIONS. Our study identifies C2orf69 as an important regulator of human mitochondrial function and suggests that this gene has additional influence on other metabolic pathways., Introduction Inborn errors of metabolism (IEMs) are a genetically heterogeneous group of more than 1000 diseases (1). They result from metabolic defects due to a deficiency of enzymes, membrane transporters, [...]

Published
2021
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40. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Author

Coughlin, II, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Jr, Sidney M., Aziz, Verena G., Tsai, Becky P., Gao, Hanlin, Nagy, Peter L., Hyland, Keith, van Dooren, Silvy J. M., Salomons, Gajja S., and Van Hove, Johan L. K.

Published
2018
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42. Hospital-to-home transitions for children with medical complexity:part 2—a core outcome set

Author

Haspels, Heleen N., de Lange, Annemieke A., Alsem, Mattijs W., Sandbergen, Bettina, Dulfer, Karolijn, de Hoog, Matthijs, Joosten, Koen F.M., van Karnebeek, Clara D., van Woensel, Job B.M., Maaskant, Jolanda M., Haspels, Heleen N., de Lange, Annemieke A., Alsem, Mattijs W., Sandbergen, Bettina, Dulfer, Karolijn, de Hoog, Matthijs, Joosten, Koen F.M., van Karnebeek, Clara D., van Woensel, Job B.M., and Maaskant, Jolanda M.

Abstract

Appropriate outcome measures as part of high-quality intervention trials are critical to advancing hospital-to-home transitions for Children with Medical Complexity (CMC). Our aim was to conduct a Delphi study and focus groups to identify a Core Outcome Set (COS) that healthcare professionals and parents consider essential outcomes for future intervention research. The development process consisted of two phases: (1) a three-round Delphi study in which different professionals rated outcomes, previously described in a systematic review, for inclusion in the COS and (2) focus groups with parents of CMC to validate the results of the Delphi study. Forty-five professionals participated in the Delphi study. The response rates were 55%, 57%, and 58% in the three rounds, respectively. In addition to the 24 outcomes from the literature, the participants suggested 12 additional outcomes. The Delphi rounds resulted in the following core outcomes: (1) disease management, (2) child’s quality of life, and (3) impact on the life of families. Two focus groups with seven parents highlighted another core outcome: (4) self-efficacy of parents. Conclusion: An evidence-informed COS has been developed based on consensus among healthcare professionals and parents. These core outcomes could facilitate standard reporting in future CMC hospital to home transition research. This study facilitated the next step of COS development: selecting the appropriate measurement instruments for every outcome. What is Known: • Hospital-to-home transition for Children with Medical Complexity is a challenging process. • The use of core outcome sets could improve the quality and consistency of research reporting, ultimately leading to better outcomes for children and families. What is New: • The Core Outcome Set for transitional care for Children with Medical Complexity includes four outcomes: disease management, children’s quality of life, impact on the life of families, and self-efficacy of parents.

Published
2023

43. Hospital-to-home transitions for children with medical complexity: part 2-a core outcome set

Author

Revalidatie Medisch Kinderen, Haspels, Heleen N, de Lange, Annemieke A, Alsem, Mattijs W, Sandbergen, Bettina, Dulfer, Karolijn, de Hoog, Matthijs, Joosten, Koen F M, van Karnebeek, Clara D, van Woensel, Job B M, Maaskant, Jolanda M, Revalidatie Medisch Kinderen, Haspels, Heleen N, de Lange, Annemieke A, Alsem, Mattijs W, Sandbergen, Bettina, Dulfer, Karolijn, de Hoog, Matthijs, Joosten, Koen F M, van Karnebeek, Clara D, van Woensel, Job B M, and Maaskant, Jolanda M

Published
2023

44. Hospital-to-home transitions for children with medical complexity: part 1, a systematic review of reported outcomes

Author

Revalidatie Medisch Kinderen, de Lange, Annemieke, Alsem, Mattijs W, Haspels, Heleen N, van Karnebeek, Clara D M, van Woensel, Job B M, Etten-Jamaludin, Faridi S, Maaskant, Jolanda M, Revalidatie Medisch Kinderen, de Lange, Annemieke, Alsem, Mattijs W, Haspels, Heleen N, van Karnebeek, Clara D M, van Woensel, Job B M, Etten-Jamaludin, Faridi S, and Maaskant, Jolanda M

Published
2023

45. The malate-aspartate shuttle is important for de novo serine biosynthesis

Author

Genetica Sectie Metabole Diagnostiek, Cancer, CMM Groep Kalkhoven, Genetica, Child Health, Brain, Broeks, Melissa H, Meijer, Nils W F, Westland, Denise, Bosma, Marjolein, Gerrits, Johan, German, Hannah M, Ciapaite, Jolita, van Karnebeek, Clara D M, Wanders, Ronald J A, Zwartkruis, Fried J T, Verhoeven-Duif, Nanda M, Jans, Judith J M, Genetica Sectie Metabole Diagnostiek, Cancer, CMM Groep Kalkhoven, Genetica, Child Health, Brain, Broeks, Melissa H, Meijer, Nils W F, Westland, Denise, Bosma, Marjolein, Gerrits, Johan, German, Hannah M, Ciapaite, Jolita, van Karnebeek, Clara D M, Wanders, Ronald J A, Zwartkruis, Fried J T, Verhoeven-Duif, Nanda M, and Jans, Judith J M

Published
2023

46. Maintenance of cellular vitamin B 6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein

Author

Genetica Sectie Metabole Diagnostiek, Brain, Child Health, Genetica, Cancer, Ciapaite, Jolita, van Roermund, Carlo W T, Bosma, Marjolein, Gerrits, Johan, Houten, Sander M, IJlst, Lodewijk, Waterham, Hans R, van Karnebeek, Clara D M, Wanders, Ronald J A, Zwartkruis, Fried J T, Jans, Judith J, Verhoeven-Duif, Nanda M, Genetica Sectie Metabole Diagnostiek, Brain, Child Health, Genetica, Cancer, Ciapaite, Jolita, van Roermund, Carlo W T, Bosma, Marjolein, Gerrits, Johan, Houten, Sander M, IJlst, Lodewijk, Waterham, Hans R, van Karnebeek, Clara D M, Wanders, Ronald J A, Zwartkruis, Fried J T, Jans, Judith J, and Verhoeven-Duif, Nanda M

Published
2023

47. MOGS‐ CDG: Quantitative analysis of the diagnosticGlc 3 Mantetrasaccharide and clinical spectrum of six new cases

Author

Post, Merel A., primary, de Wit, Isis, additional, Zijlstra, Fokje S. M., additional, Engelke, Udo F. H., additional, van Rooij, Arno, additional, Christodoulou, John, additional, Tan, Tiong Yang, additional, Le Fevre, Anna, additional, Jin, Danqun, additional, Yaplito‐Lee, Joy, additional, Lee, Beom Hee, additional, Low, Karen J., additional, Mallick, Andrew A., additional, Õunap, Katrin, additional, Pitt, James, additional, Reardon, William, additional, Vals, Mari‐Anne, additional, Wortmann, Saskia B., additional, Wessels, Hans J. C. T., additional, Bärenfänger, Melissa, additional, van Karnebeek, Clara D. M., additional, and Lefeber, Dirk J., additional

Published
2023
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49. Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).

Author

Ferreira, Elise A., Buijs, Mark J. N., Wijngaard, Robin, Daams, Joost G., Datema, Mareen R., Engelen, Marc, van Karnebeek, Clara D. M., Oud, Machteld M., Vaz, Frédéric M., Wamelink, Mirjam M. C., van der Crabben, Saskia N., and Langeveld, Mirjam

Subjects
NUCLEOTIDE sequencing, METABOLIC disorders, WHOLE genome sequencing, PYRAMIDAL tract, ADULTS
Abstract

Background/Objectives: The timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is diffcult, because phenotypes are different fromthose in children and influenced by symptoms fromacquired conditions. This systematic literature review aims to answer the following questions: (1) What is the diagnostic yield of exome/genome sequencing (ES/GS) for IMD in adults with unsolved phenotypes? (2) What characteristics do adult patients diagnosed with IMD through ES/GS have? Methods: A systematic search was conducted using the following search terms (simplified): "Whole exome sequencing (WES)," "Whole genome sequencing (WGS)," "IMD," "diagnostics" and the 1,450 known metabolic genes derived from ICIMD. Data from 695 articles, including 27,702 patients, were analyzed using two different methods. First, the diagnostic yield for IMD in patients presenting with a similar phenotype was calculated. Secondly, the characteristics of patients diagnosed with IMD through ES/GS in adulthood were established. Results: The diagnostic yield of ES and/or GS for adult patients presenting with unexplained neurological symptoms is 11% and for those presenting with dyslipidemia, diabetes, auditory and cardiovascular symptoms 10, 9, 8 and 7%, respectively. IMD patients diagnosed in adulthood (n = 1,426), most frequently portray neurological symptoms (65%), specifically extrapyramidal/cerebellar symptoms (57%), intellectual disability/dementia/psychiatric symptoms (41%), pyramidal tract symptoms/myelopathy (37%), peripheral neuropathy (18%), and epileptic seizures (16%). The second most frequently observed symptoms were ophthalmological (21%). In 47% of the IMD diagnosed patients, symptoms from multiple organ systems were reported. On average, adult patients are diagnosed 15 years after first presenting symptoms. Disease-related abnormalities inmetabolites in plasma, urine or cerebral spinal fluid were identified in 40% of all patients whom underwent metabolic screening. In 52% the diagnosis led to identification of affected family members with the same IMD. Conclusion: ES and/or GS is likely to yield an IMD diagnosis in adult patients presenting with an unexplained neurological phenotype, as well as in patients with a phenotype involving multiple organ systems. If a gene panel does not yield a conclusive diagnosis, it is worthwhile to analyze all known disease genes. Further prospective research is needed to establish the best diagnostic approach (type and sequence of metabolic and genetic test) in adult patients presenting with a wide range of symptoms, suspected of having an IMD. [ABSTRACT FROM AUTHOR]

Published
2023
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50. Can untreated PKU patients escape from intellectual disability? A systematic review

Author

van Vliet, Danique, van Wegberg, Annemiek M. J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D., Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L., Hollak, Carla E. M., Jørgensen, Jens V., Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö., Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K., Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., and van Spronsen, Francjan J.

Published
2018
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