Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Hörster, F, Garbade, S. F, Zwickler, T, Aydin, H. I, Bodamer, O. A, Burlina, A. B, Das, A. M, De Klerk, J. B. C, Dionisi-Vici, C, Geb, S, Gökcay, G, Guffon, N, Maier, E. M, Morava, E, Walter, J. H, Schwahn, B, Wijburg, F. A, Lindner, M, Grünewald, S, Baumgartner, M. R, Kölker, S
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
Get full text
Journal Article
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU
van Spronsen, F. J, van Rijn, M, Dorgelo, B, Hoeksma, M, Bosch, A. M, Mulder, M. F, de Klerk, J. B. C, de Koning, T, Rubio-Gozalbo, M. Estela, de Vries, M, Verkerk, P. H
Published in Journal of inherited metabolic disease (01.02.2009)
Published in Journal of inherited metabolic disease (01.02.2009)
Get full text
Journal Article
Conference Proceeding
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria
Hoeksma, M., Van Rijn, M., Verkerk, P. H., Bosch, A. M., Mulder, M. F., Klerk, J. B. C., De Koning, T. J., Rubio‐Gozalbo, E., De Vries, M., Sauer, P. J. J., Spronsen, F. J.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
Get full text
Journal Article
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency
Meer, K., Roef, M. J., Klerk, J. B. C., Bakker, H. D., Smit, G. P. A., Poll‐The, B. T.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
Get full text
Journal Article
Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis
Houten, S. M., Romeijn, G. J., Koster, J., Gray, R. G. F., Darbyshire, P., Smit, G. P. A., de Klerk, J. B. C., Duran, M., Gibson, K. M., Wanders, R. J. A., Waterham, H. R.
Published in Human molecular genetics (01.08.1999)
Published in Human molecular genetics (01.08.1999)
Get full text
Journal Article
Enzyme therapy for Pompe disease with recombinant human α‐glucosidase from rabbit milk
Van den Hout, J. M. P., Reuser, A. J. J., Klerk, J. B. C., Arts, W. F., Smeitink, J. A. M., Van der Ploeg, A. T.
Published in Journal of inherited metabolic disease (01.04.2001)
Published in Journal of inherited metabolic disease (01.04.2001)
Get full text
Journal Article
Conference Proceeding
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA
Jacobs, L. J. A. M., Jongbloed, R. J. E., Wijburg, F. A., Klerk, J. B. C., Geraedts, J. P. M., Nijland, J. G., Scholte, H. R., Coo, I. F. M., Smeets, H. J. M.
Published in Journal of inherited metabolic disease (01.01.2004)
Published in Journal of inherited metabolic disease (01.01.2004)
Get full text
Journal Article
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
Grünewald, S., Imbach, T., Huijben, K., Rubio-Gozalbo, M. E., Verrips, A., De Klerk, J. B. C., Stroink, H., De Rijk-Van Andel, J. F., Van Hove, J. L. K., Wendel, U., Matthijs, G., Hennet, T., Jaeken, J., Wevers, R. A.
Published in Annals of neurology (01.06.2000)
Published in Annals of neurology (01.06.2000)
Get full text
Journal Article
Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
Oemardien, L.F., Boer, A.M., Ruijter, G.J.G., van der Ploeg, A.T., de Klerk, J.B.C., Reuser, A.J.J., Verheijen, F.W.
Published in Molecular genetics and metabolism (2011)
Published in Molecular genetics and metabolism (2011)
Get full text
Journal Article
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome
van den Ouweland, J M, de Klerk, J B, van de Corput, M P, Dirks, R W, Raap, A K, Scholte, H R, Huijmans, J G, Hart, L M, Bruining, G J, Maassen, J A
Published in European journal of human genetics : EJHG (01.03.2000)
Published in European journal of human genetics : EJHG (01.03.2000)
Get full text
Journal Article
The success of dietary protein restriction in alkaptonuria patients is age‐dependent
Haas, V., Carbasius Weber, E. C., Klerk, J. B. C., Bakker, H. D., Smit, G. P. A., Huijbers, W. A. R., Duran, M., Poll‐The, B. T.
Published in Journal of inherited metabolic disease (01.12.1998)
Published in Journal of inherited metabolic disease (01.12.1998)
Get full text
Journal Article
Quasi-moyamoya disease and heterozygosity for homocystinuria in a five-year-old girl
van Diemen-Steenvoorde, R, van Nieuwenhuizen, O, de Klerk, J B, Duran, M
Published in Neuropediatrics (01.05.1990)
Published in Neuropediatrics (01.05.1990)
Get more information
Journal Article
Die Heilige Gees en gebed in die erediens
De Klerk, B. J.
Published in In die skriflig : tydskrif van die Gereformeerde Teologiese Vereniging (26.07.2009)
Published in In die skriflig : tydskrif van die Gereformeerde Teologiese Vereniging (26.07.2009)
Get full text
Journal Article
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β‐oxidation defects
Onkenhout, W., Venizelos, V., Scholte, H. R., Klerk, J. B. C., Poorthuis, B. J. H. M.
Published in Journal of inherited metabolic disease (01.06.2001)
Published in Journal of inherited metabolic disease (01.06.2001)
Get full text
Journal Article
Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Hörster, F., Garbade, S. F., Zwickler, T., Aydin, H. I., Bodamer, O. A., Burlina, A. B., Das, A. M., De Klerk, J. B. C., Dionisi-Vici, C., Geb, S., Gökcay, G., Guffon, N., Maier, E. M., Morava, E., Walter, J. H., Schwahn, B., Wijburg, F. A., Lindner, M., Grünewald, S., Baumgartner, M. R., Kölker, S.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
Get full text
Journal Article
Sudden infant death and lysinuric protein intolerance
de Klerk, J B, Duran, M, Huijmans, J G, Mancini, G M
Published in European journal of pediatrics (01.03.1996)
Published in European journal of pediatrics (01.03.1996)
Get full text
Journal Article
L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship
de Klerk, J B, Huijmans, J G, Stroink, H, Robben, S G, Jakobs, C, Duran, M
Published in Neuropediatrics (01.12.1997)
Published in Neuropediatrics (01.12.1997)
Get more information
Journal Article
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype
Ijlst, L, Uskikubo, S, Kamijo, T, Hashimoto, T, Ruiter, J P, de Klerk, J B, Wanders, R J
Published in Journal of inherited metabolic disease (01.01.1995)
Published in Journal of inherited metabolic disease (01.01.1995)
Get more information
Journal Article