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1. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G.J., van Gassen, Koen L.I., Terheggen-Lagro, Suzanne W.J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H.J., Mulder, Margot F., and van Hasselt, Peter M.

Published
2019
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2. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., and van Hasselt, Peter M.

Published
2021
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8. Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

Author

Stroek, Kevin, primary, Boelen, Anita, additional, Bouva, Marelle J., additional, De Sain‐van der Velden, Monique, additional, Schielen, Peter C. J. I., additional, Maase, Rose, additional, Engel, Henk, additional, Jakobs, Bernadette, additional, Kluijtmans, Leo A. J., additional, Mulder, Margot F., additional, Rubio‐Gozalbo, M. E., additional, Spronsen, Francjan J., additional, Visser, Gepke, additional, Vries, Maaike C., additional, Williams, Monique, additional, Heijboer, Annemieke C., additional, Kemper, Evelien A., additional, and Bosch, Annet M., additional

Published
2020
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9. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes (Genetics in Medicine, (2019), 21, 2, (319-330), 10.1038/s41436-018-0048-y)

Author

Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., and van Hasselt, Peter M.

Abstract

The reported QARS deficient patient carries the QARS1 mutation (NM_005051.2) c.793C>T p.(Arg265Cys and not Arg25Cys). In addition, in Fig. 5, the reported p.Lys476* in QARS1 should have been p.Lys496* (Kodera H, Osaka H, Iai M, et al. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet. 2015;60:97–101. https://doi.org/10.1038/ jhg.2014.103). Finally, we have been informed that the patient described by Datta et al. (Datta A, Ferguson A, Simonson C, et al. Case report: QARS deficiency and favorable outcome following treatment of seizures with ketogenic diet. J Child Neurol. 2017;32(4):403–407. https://doi. org/10.1177/0883073816685508) is the same patient previously published by Salvarinova et al. (Salvarinova R, Ye CX, Rossi A, et al. Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities. Neurogenetics. 2015;16(2):145–149. https://doi.org/10.1007/s10048-014-0432-y), and this patient is compound heterozygous for the nonsense variant c.1387C>T (p.Arg463*) and the missense variant c.2226G>C (p.Gln742His). These points have now been corrected in both the PDF and HTML versions of the Article.

Published
2020
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10. Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes

Author

Bleeker, Jeannette C, Kok, Irene L, Ferdinandusse, Sacha, van der Pol, W Ludo, Cuppen, Inge, Bosch, Annet M, Langeveld, Mirjam, Derks, Terry G J, Williams, Monique, de Vries, Maaike, Mulder, Margot F, Rubio Gozalbo, Estela, van der Velden, Monique G M de Sain, Rennings, Alexander J, Schielen, Peter J C I, Dekkers, Eugenie, Houtkooper, Riekelt H, Waterham, Hans R, Pras-Raves, Mia L, Wanders, Ronald J A, van Hasselt, Peter M, Schoenmakers, Marja, Wijburg, Frits A, Visser, Gepke, and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Subjects
hypoglycemia, newborn screening, very-long-chain acyl-CoA dehydrogenase deficiency, embryonic structures, food and beverages, cardiomyopathy, fatty acid oxidation, myopathy
Abstract

BACKGROUND: Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by newborn screening (NBS) are asymptomatic at the time of diagnosis and remain asymptomatic. If this outcome is due to prompt diagnosis and initiation of therapy, or because of identification of individuals with biochemical abnormalities who will never develop symptoms, is unclear. METHODS: A 10 year longitudinal national cohort study of genetically confirmed VLCADD patients born before and after introduction of NBS. Main outcome measures were clinical outcome parameters, ACADVL gene analysis, VLCAD activity and overall capacity of long-chain fatty acid oxidation (LC-FAO flux) in lymphocytes and cultured skin fibroblasts. FINDINGS: Median VLCAD activity in lymphocytes of 54 patients, 21 diagnosed pre-NBS and 33 by NBS was respectively 5.4% (95% CI 4.0-8.3%) and 12.6% (95% CI 10.7-17.7%; p10% 7 out of 12 diagnosed pre-NBS versus none by NBS experienced hypoglycemic events. INTERPRETATIONS: NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. The effect of NBS on prevalence and prevention of myopathy-related complications remains unclear. TAKE-HOME MESSAGE: NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. This article is protected by copyright. All rights reserved.

Published
2019

11. Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

Author

Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sain-van der Velden, Monique, Schielen, Peter C.J.I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A.J., Mulder, Margot F., Rubio-Gozalbo, M. E., van Spronsen, Francjan J., Visser, Gepke, de Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., Bosch, Annet M., Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sain-van der Velden, Monique, Schielen, Peter C.J.I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A.J., Mulder, Margot F., Rubio-Gozalbo, M. E., van Spronsen, Francjan J., Visser, Gepke, de Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., and Bosch, Annet M.

Published
2020

12. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, Pathologie Groep Derksen, Pathologie Pathologen staf, Cancer, Genetica, Genetica Sectie Genoomdiagnostiek, MS Neonatologie, Infection & Immunity, MDL patientenzorg, Cluster C, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, Pathologie Groep Derksen, Pathologie Pathologen staf, Cancer, Genetica, Genetica Sectie Genoomdiagnostiek, MS Neonatologie, Infection & Immunity, MDL patientenzorg, Cluster C, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, and van Hasselt, Peter M

Published
2020

13. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Author

Touw Catharina M L, Smit G Peter A, de Vries Maaike, de Klerk Johannis B C, Bosch Annet M, Visser Gepke, Mulder Margot F, Rubio-Gozalbo M, Elvers Bert, Niezen-Koning Klary E, Wanders Ronald J A, Waterham Hans R, Reijngoud Dirk-Jan, and Derks Terry G J

Subjects
Population newborn screening, Enzyme, Genotype, Prevalence, Medicine
Abstract

Abstract Background Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that have never been identified in clinically ascertained patients. It could be hypothesised that residual MCAD enzyme activity can contribute in risk stratification of subjects with variant ACADM genotypes. Methods We performed a retrospective cohort study of all patients identified upon population NBS for MCAD deficiency in the Netherlands between 2007–2010. Clinical, molecular, and enzymatic data were integrated. Results Eighty-four patients from 76 families were identified. Twenty-two percent of the subjects had a variant ACADM genotype. In patients with classical ACADM genotypes, residual MCAD enzyme activity was significantly lower (median 0%, range 0-8%) when compared to subjects with variant ACADM genotypes (range 0-63%; 4 cases with 0%, remainder 20-63%). Patients with (fatal) neonatal presentations before diagnosis displayed residual MCAD enzyme activities Conclusions Determination of residual MCAD enzyme activity improves our understanding of variant ACADM genotypes and may contribute to risk stratification. Subjects with variant ACADM genotypes and residual MCAD enzyme activities ACADM genotypes. Parental instructions and an emergency regimen will remain principles of the treatment in any type of MCAD deficiency, as the effect of intercurrent illness on residual MCAD enzyme activity remains uncertain. There are, however, arguments in favour of abandoning the general advice to avoid prolonged fasting in subjects with variant ACADM genotypes and >10% residual MCAD enzyme activity.

Published
2012
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14. Aminoacyl-tRNA synthetase deficiencies: in search of common themes

Author

Kok, G, Schene, IF, Nikkels, PGJ, van Gassen, KLI, Terheggen-Lagro, Suzanne W.J., van der Crabben, SN, Hoeks, Sanne B. E. A., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, RHJ, Mulder, Margot F., van Hasselt, PM, and Fuchs, SA

Abstract

24. MISCELLANEOUS / NEW DISEASE GROUP : Oral / Poster

Published
2018

15. Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Author

Haijes, Hanneke A., primary, Molema, Femke, additional, Langeveld, Mirjam, additional, Janssen, Mirian C., additional, Bosch, Annet M., additional, Spronsen, Francjan, additional, Mulder, Margot F., additional, Verhoeven‐Duif, Nanda M., additional, Jans, Judith J.M., additional, Ploeg, Ans T., additional, Wagenmakers, Margreet A., additional, Rubio‐Gozalbo, M. Estela, additional, Brouwers, Martijn C. G. J., additional, Vries, Maaike C., additional, Langendonk, Janneke G., additional, Williams, Monique, additional, and Hasselt, Peter M., additional

Published
2019
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16. A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

Author

Jager, Emmalie A., primary, Kuijpers, Myrthe M., additional, Bosch, Annet M., additional, Mulder, Margot F., additional, Gozalbo, Estela R., additional, Visser, Gepke, additional, Vries, Maaike, additional, Williams, Monique, additional, Waterham, Hans R., additional, Spronsen, Francjan J., additional, Schielen, Peter C. J. I., additional, and Derks, Terry G. J., additional

Published
2019
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17. Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, van der Pol, W. Ludo, additional, Cuppen, Inge, additional, Bosch, Annet M., additional, Langeveld, Mirjam, additional, Derks, Terry G. J., additional, Williams, Monique, additional, de Vries, Maaike, additional, Mulder, Margot F., additional, Gozalbo, Estela R., additional, de Sain‐van der Velden, Monique G. M., additional, Rennings, Alexander J., additional, Schielen, Peter J. C. I., additional, Dekkers, Eugenie, additional, Houtkooper, Riekelt H., additional, Waterham, Hans R., additional, Pras‐Raves, Mia L., additional, Wanders, Ronald J. A., additional, van Hasselt, Peter M., additional, Schoenmakers, Marja, additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2019
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18. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Author

Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, A.M., Mulder, Margot F., Gozalbo, Estela R., Visser, Gepke, Vries, M.C. de, Schielen, Peter C.J.I., Derks, Terry G.J., Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, A.M., Mulder, Margot F., Gozalbo, Estela R., Visser, Gepke, Vries, M.C. de, Schielen, Peter C.J.I., and Derks, Terry G.J.

Abstract

Contains fulltext : 207999.pdf (publisher's version ) (Open Access)

Published
2019

19. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M., van Den Hurk, Dorine T., de Sain-van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., Visser, Gepke, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M., van Den Hurk, Dorine T., de Sain-van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., and Visser, Gepke

Published
2019

20. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, and van Hasselt, Peter M

Published
2019

21. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., and Visser, Gepke

Published
2019

22. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Author

Metabole ziekten patientenzorg, Genetica Sectie Metabole Diagnostiek, Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, Annet M., Mulder, Margot F., Gozalbo, Estela R., Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R., van Spronsen, Francjan J., Schielen, Peter C.J.I., Derks, Terry G.J., Metabole ziekten patientenzorg, Genetica Sectie Metabole Diagnostiek, Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, Annet M., Mulder, Margot F., Gozalbo, Estela R., Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R., van Spronsen, Francjan J., Schielen, Peter C.J.I., and Derks, Terry G.J.

Published
2019

23. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Child Health, Metabole ziekten onderzoek 1, Pathologie Pathologen staf, Cancer, Genetica Sectie Genoomdiagnostiek, MS Neonatologie, MDL, Cluster C, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Child Health, Metabole ziekten onderzoek 1, Pathologie Pathologen staf, Cancer, Genetica Sectie Genoomdiagnostiek, MS Neonatologie, MDL, Cluster C, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, and van Hasselt, Peter M

Published
2019

24. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke, Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., and Visser, Gepke

Published
2019

25. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Author

Metabole ziekten onderzoek 1, Afdeling Dietetiek, Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M., van Den Hurk, Dorine T., de Sain-van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., Visser, Gepke, Metabole ziekten onderzoek 1, Afdeling Dietetiek, Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M., van Den Hurk, Dorine T., de Sain-van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., and Visser, Gepke

Published
2019

26. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Author

Williams, Monique, primary, Valayannopoulos, Vassili, additional, Altassan, Ruqaiah, additional, Chung, Wendy K., additional, Heijboer, Annemieke C., additional, Keng, Wei Teik, additional, Lapatto, Risto, additional, McClean, Patricia, additional, Mulder, Margot F., additional, Tylki‐Szymańska, Anna, additional, Walenkamp, Marie‐Jose E., additional, Alfadhel, Majid, additional, Alakeel, Hajar, additional, Salomons, Gajja S., additional, Eyaid, Wafaa, additional, and Wamelink, Mirjam M. C., additional

Published
2019
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27. Proposal for an individualized dietary strategy in patients with very long‐chain acyl‐CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, de Vries, Maaike, additional, Derks, Terry G.J., additional, Mulder, Margot F., additional, Williams, Monique, additional, Gozalbo, Estela Rubio, additional, Bosch, Annet M., additional, van den Hurk, Dorine T., additional, de Sain‐van der Velden, Monique G.M., additional, Waterham, Hans R., additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2019
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28. Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.

Author

Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sain‐van der Velden, Monique, Schielen, Peter C. J. I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A. J., Mulder, Margot F., Rubio‐Gozalbo, M. E., Spronsen, Francjan J., Visser, Gepke, Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., and Bosch, Annet M.

Published
2020
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29. Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Author

Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., Spronsen, Francjan, Mulder, Margot F., Verhoeven‐Duif, Nanda M., Jans, Judith J.M., Ploeg, Ans T., Wagenmakers, Margreet A., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, and Hasselt, Peter M.

Abstract

Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. Prior to implementation in the Netherlands, we aim to estimate the expected health gain of NBS for PA and MMA. In this national retrospective cohort study, the clinical course of 76/83 Dutch PA and MMA patients, diagnosed between January 1979 and July 2019, was evaluated. Five clinical outcome parameters were defined: adverse outcome of the first symptomatic phase, frequency of acute metabolic decompensations (AMD), cognitive function, mitochondrial complications, and treatment‐related complications. Outcomes of patients identified by family testing were compared with the outcomes of their index siblings. An adverse outcome due to the first symptomatic phase was recorded in 46% of the clinically diagnosed patients. Outcome of the first symptomatic phase was similar in 5/9 sibling pairs and better in 4/9 pairs. Based on the day of diagnosis of the clinically diagnosed patients and sibling pair analysis, a preliminary estimated reduction of adverse outcome due to the first symptomatic phase from 46% to 36%‐38% was calculated. Among the sibling pairs, AMD frequency, cognitive function, mitochondrial, and treatment‐related complications were comparable. These results suggest that the health gain of NBS for PA and MMA in overall outcome may be limited, as only a modest decrease of adverse outcomes due to the first symptomatic phase is expected. With current clinical practice, no reduced AMD frequency, improved cognitive function, or reduced frequency of mitochondrial or treatment‐related complications can be expected. [ABSTRACT FROM AUTHOR]

Published
2020
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30. Aminoacyl-tRNA synthetase deficiencies: in search of common themes

Author

Metabole ziekten onderzoek 1, Pathologie Pathologen staf, Cancer, Genetica Sectie Genoomdiagnostiek, Child Health, MDL, Metabole ziekten patientenzorg, Cluster C, Kok, G, Schene, IF, Nikkels, PGJ, van Gassen, KLI, Terheggen-Lagro, Suzanne W.J., van der Crabben, SN, Hoeks, Sanne B. E. A., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, RHJ, Mulder, Margot F., van Hasselt, PM, Fuchs, SA, Metabole ziekten onderzoek 1, Pathologie Pathologen staf, Cancer, Genetica Sectie Genoomdiagnostiek, Child Health, MDL, Metabole ziekten patientenzorg, Cluster C, Kok, G, Schene, IF, Nikkels, PGJ, van Gassen, KLI, Terheggen-Lagro, Suzanne W.J., van der Crabben, SN, Hoeks, Sanne B. E. A., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, RHJ, Mulder, Margot F., van Hasselt, PM, and Fuchs, SA

Published
2018

31. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, de Vries, Maaike, additional, Derks, Terry G. J., additional, Mulder, Margot F., additional, Williams, Monique, additional, Rubio Gozalbo, Estela, additional, Bosch, Annet M., additional, van den Hurk, Dorine T., additional, de Sain-van der Velden, Monique G. M., additional, Waterham, Hans R., additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2018
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32. A Decade of Newborn Screening for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD): Benefits, Complications and the Need for Long-Term Follow-Up

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, van der Pol, W. Ludo, additional, Cuppen, Inge, additional, Bosch, Annet M., additional, Langeveld, Mirjam, additional, Derks, Terry G. J., additional, Williams, Monique, additional, de Vries, Maaike, additional, Mulder, Margot F, additional, Gozalbo, Estela Rubio, additional, de Sain-van der Velden, Monique G.M., additional, Rennings, Alexander J., additional, Schielen, Peter J.C.I., additional, Dekkers, Eugenie, additional, Houtkooper, Riekelt H., additional, Waterham, Hans R., additional, Pras-Raves, Mia L., additional, Wanders, Ronald J.A., additional, van Hasselt, Peter M., additional, Schoenmakers, Marja, additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2018
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33. Pain : a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

Author

Brands, Marion M G, Güngör, Deniz, van den Hout, Johanna M P, Karstens, Francois P J, Oussoren, Esmee, Plug, Iris, Boelens, Jaap Jan, van Hasselt, Peter M., Hollak, Carla E M, Mulder, Margot F., Gozalbo, Estela Rubio, Smeitink, Jan A., Smit, G. Peter A, Wijburg, Frits A., Meutgeert, Hanka, van der Ploeg, Ans T., Brands, Marion M G, Güngör, Deniz, van den Hout, Johanna M P, Karstens, Francois P J, Oussoren, Esmee, Plug, Iris, Boelens, Jaap Jan, van Hasselt, Peter M., Hollak, Carla E M, Mulder, Margot F., Gozalbo, Estela Rubio, Smeitink, Jan A., Smit, G. Peter A, Wijburg, Frits A., Meutgeert, Hanka, and van der Ploeg, Ans T.

Published
2015

34. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

Author

CTI Nierkens, Child Health, Infection & Immunity, SCT onderzoek, Metabole ziekten patientenzorg, Brands, Marion M G, Güngör, Deniz, van den Hout, Johanna M P, Karstens, Francois P J, Oussoren, Esmee, Plug, Iris, Boelens, Jaap Jan, van Hasselt, Peter M., Hollak, Carla E M, Mulder, Margot F., Gozalbo, Estela Rubio, Smeitink, Jan A., Smit, G. Peter A, Wijburg, Frits A., Meutgeert, Hanka, van der Ploeg, Ans T., CTI Nierkens, Child Health, Infection & Immunity, SCT onderzoek, Metabole ziekten patientenzorg, Brands, Marion M G, Güngör, Deniz, van den Hout, Johanna M P, Karstens, Francois P J, Oussoren, Esmee, Plug, Iris, Boelens, Jaap Jan, van Hasselt, Peter M., Hollak, Carla E M, Mulder, Margot F., Gozalbo, Estela Rubio, Smeitink, Jan A., Smit, G. Peter A, Wijburg, Frits A., Meutgeert, Hanka, and van der Ploeg, Ans T.

Published
2015

35. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

Author

Brands, Marion M. G., primary, Güngör, Deniz, additional, van den Hout, Johanna M. P., additional, Karstens, Francois P. J., additional, Oussoren, Esmee, additional, Plug, Iris, additional, Boelens, Jaap Jan, additional, van Hasselt, Peter M., additional, Hollak, Carla E. M., additional, Mulder, Margot F., additional, Gozalbo, Estela Rubio, additional, Smeitink, Jan A., additional, Smit, G. Peter A., additional, Wijburg, Frits A., additional, Meutgeert, Hanka, additional, and van der Ploeg, Ans T., additional

Published
2014
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37. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Author

UCL, Alders, Marielle, Hogan, Benjamin M., Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A., Holmberg, Eva E., Mannens, Marcel M. A. M., Mulder, Margot F., Offerhaus, G. Johan A., Prescott, Trine E., Schroor, Eelco J., Verheij, Joke B. G. M., Witte, Merlijn, Zwijnenburg, Petra J., Vikkula, Miikka, Schulte-Merker, Stefan, Hennekam, Raoul C., UCL, Alders, Marielle, Hogan, Benjamin M., Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A., Holmberg, Eva E., Mannens, Marcel M. A. M., Mulder, Margot F., Offerhaus, G. Johan A., Prescott, Trine E., Schroor, Eelco J., Verheij, Joke B. G. M., Witte, Merlijn, Zwijnenburg, Petra J., Vikkula, Miikka, Schulte-Merker, Stefan, and Hennekam, Raoul C.

Abstract

Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.

Published
2009

38. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Author

Alders, Marielle, primary, Hogan, Benjamin M, additional, Gjini, Evisa, additional, Salehi, Faranak, additional, Al-Gazali, Lihadh, additional, Hennekam, Eric A, additional, Holmberg, Eva E, additional, Mannens, Marcel M A M, additional, Mulder, Margot F, additional, Offerhaus, G Johan A, additional, Prescott, Trine E, additional, Schroor, Eelco J, additional, Verheij, Joke B G M, additional, Witte, Merlijn, additional, Zwijnenburg, Petra J, additional, Vikkula, Mikka, additional, Schulte-Merker, Stefan, additional, and Hennekam, Raoul C, additional

Published
2009
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41. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Author

L. Touw, Catharina M., A. Smit, G. Peter, de Vries, Maaike, C. de Klerk, Johannis B., Bosch, Annet M., Visser, Gepke, Mulder, Margot F., Rubio-Gozalbo, M. Estela, Elvers, Bert, Niezen-Koning, Klary E., A. Wanders, Ronald J., Waterham, Hans R., Reijngoud, Dirk-Jan, and J. Derks, Terry G.

Subjects
DEHYDROGENASES, GENETIC polymorphisms, ENZYMES, PERINATAL growth, GENETIC research
Abstract

Background: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that have never been identified in clinically ascertained patients. It could be hypothesised that residual MCAD enzyme activity can contribute in risk stratification of subjects with variant ACADM genotypes. Methods: We performed a retrospective cohort study of all patients identified upon population NBS for MCAD deficiency in the Netherlands between 2007-2010. Clinical, molecular, and enzymatic data were integrated. Results: Eighty-four patients from 76 families were identified. Twenty-two percent of the subjects had a variant ACADM genotype. In patients with classical ACADM genotypes, residual MCAD enzyme activity was significantly lower (median 0%, range 0-8%) when compared to subjects with variant ACADM genotypes (range 0-63%; 4 cases with 0%, remainder 20-63%). Patients with (fatal) neonatal presentations before diagnosis displayed residual MCAD enzyme activities <1%. After diagnosis and initiation of treatment, residual MCAD enzyme activities <10% were associated with an increased risk of hypoglycaemia and carnitine supplementation. The prevalence of MCAD deficiency upon screening was 1/8,750 (95% CI 1/7,210-1/11,130). Conclusions: Determination of residual MCAD enzyme activity improves our understanding of variant ACADM genotypes and may contribute to risk stratification. Subjects with variant ACADM genotypes and residual MCAD enzyme activities <10% should be considered to have the same risks as patients with classical ACADM genotypes. Parental instructions and an emergency regimen will remain principles of the treatment in any type of MCAD deficiency, as the effect of intercurrent illness on residual MCAD enzyme activity remains uncertain. There are, however, arguments in favour of abandoning the general advice to avoid prolonged fasting in subjects with variant ACADM genotypes and >10% residual MCAD enzyme activity. [ABSTRACT FROM AUTHOR]

Published
2012
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