Search Results - "de Klerk, Johannis B.C."

The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases From the Literature by van den Hout, Hannerieke M. P, Hop, Wim, van Diggelen, Otto P, Smeitink, Jan A. M, Smit, G. Peter A, Poll-The, Bwee-Tien T, Bakker, Henk D, Loonen, M. Christa B, de Klerk, Johannis B. C, Reuser, Arnold J. J, van der Ploeg, Ans T

“…Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study…”
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Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting by FERRE, Silvia, DE BAAIJ, Jeroen H. F, BINDELS, René J. M, FERREIRA, Patrick, GERMANN, Roger, DE KLERK, Johannis B. C, LAVRIJSEN, Marla, VAN ZEELAND, Femke, VENSELAAR, Hanka, KLUIJTMANS, Leo A. J, HOENDEROP, Joost G. J

“…Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (HPABH4D). Until now, HPABH4D has been regarded as a…”
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Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene by Huijmans, Jan G. M., Schot, Rachel, de Klerk, Johannis B. C., Williams, Monique, de Coo, René F. M., Duran, Marinus, Verheijen, Frans W., van Slegtenhorst, Marjon, Mancini, Grazia M. S.

“…We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism,…”
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Genetic basis of hyperlysinemia by Houten, Sander M, Te Brinke, Heleen, Denis, Simone, Ruiter, Jos Pn, Knegt, Alida C, de Klerk, Johannis Bc, Augoustides-Savvopoulou, Persephone, Häberle, Johannes, Baumgartner, Matthias R, Coşkun, Turgay, Zschocke, Johannes, Sass, Jörn Oliver, Poll-The, Bwee Tien, Wanders, Ronald Ja, Duran, Marinus

“…Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic…”
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Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study by 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 Estela, Elvers, Bert, Niezen-Koning, Klary E, Wanders, Ronald J A, Waterham, Hans R, Reijngoud, Dirk-Jan, Derks, Terry G J

“…Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have…”
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Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients by Poll-The, Bwee Tien, Gootjes, Jeannette, Duran, Marinus, de Klerk, Johannis B.C., Maillette de Buy Wenniger-Prick, Liesbeth J., Admiraal, Ronald J.C., Waterham, Hans R., Wanders, Ronald J.A., Barth, Peter G.

“…The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and…”
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Peroxisomal D-hydroxyacyl-CoA Dehydrogenase Deficiency: Resolution of the Enzyme Defect and Its Molecular Basis in Bifunctional Protein Deficiency by Van Grunsven, Elisabeth G., Van Berkel, Emanuel, Ijlst, Lodewijk, Vreken, Peter, Johannis B. C. De Klerk, Adamski, Jerzy, Lemonde, Hugh, Clayton, Peter T., Cuebas, Dean A., Ronald J. A. Wanders

“…Peroxisomes play an essential role in a number of different metabolic pathways, including the β -oxidation of a distinct set of fatty acids and fatty acid…”
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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic by IMBACH, T, GRÜNEWALD, S, AEBI, M, HENNET, T, SCHENK, B, BURDA, P, SCHOLLEN, E, WEVERS, R. A, JAEKEN, J, DE KLERK, J. B. C, BERGER, E. G, MATTHIJS, G

“…Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent a family of genetic diseases with…”
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Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency by Vaz, F.M., Scholte, H.R., Ruiter, J., Hussaarts-Odijk, L.M., Rodrigues Pereira, R., Schweitzer, S., de Klerk, J.B.C., Waterham, H.R., Wanders, R.J.A.

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Functional Hyperactivity of Hepatic Glutamate Dehydrogenase as a Cause of the Hyperinsulinism/Hyperammonemia Syndrome: Effect of Treatment by Huijmans, Jan G. M, Duran, Marinus, de Klerk, Johannis B. C, Rovers, Marinus J, Scholte, Hans R

“…The combination of persistent hyperammonemia and hypoketotic hypoglycemia in infancy presents a diagnostic challenge. Investigation of the possible causes and…”
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Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? by Stone, D L, van Diggelen, O P, de Klerk, J B, Gaillard, J L, Niermeijer, M F, Willemsen, R, Tayebi, N, Sidransky, E

“…In recent years there has been increased recognition of a severe perinatal lethal form of Gaucher disease, the inherited deficiency of lysosomal…”
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Glutaric aciduria type I : ultrasonographic demonstration of early signs by FORSTNER, R, HOFFMANN, G. F, PLÖCHL, E, GASSNER, I, HEIDEMAN, P, DE KLERK, J. B. C, LAWRENZ-WOLF, B, DORINGER, E, WEISS-WICHERT, P, TRÖGER, J, COLOMBO, J. P

“…Glutaric aciduria type I (GA-I) is a rare inherited metabolic disease with increased excretion of glutaric acid and its metabolites. Diagnosis is often delayed…”
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Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit ( PHKB) by van den Berg, Inge E.T., van Beurden, Ellen A.C.M., de Klerk, Johannis B.C., van Diggelen, Otto P., Malingré, Helga E.M., Boer, Marijke M., Berger, Ruud

“…The association of autosomal recessive phosphorylase kinase deficiency in liver of a 3½-year-old female child with mutations in the gene encoding the common…”
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Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids by Duran, M, Mitchell, G, de Klerk, J B, de Jager, J P, Hofkamp, M, Bruinvis, L, Ketting, D, Saudubray, J M, Wadman, S K

“…Five patients aged 7 to 21 months are described who developed attacks of coma after a short prodromal illness with diarrhea or vomiting or both. Four had…”
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