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)
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Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients
Mancini, G.M.S., Stojanov, L., Willemsen, R., Kleijer, W.J., Huijmans, J.G.M., van Diggelen, O.P., de Klerk, J.B.C., Vuzevski, V.D., Oranje, A.P.
Published in Dermatology (Basel) (01.01.1999)
Published in Dermatology (Basel) (01.01.1999)
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Therapy with docosahexaenoic acid and arachidonic acid in patients with profound deficiency of polyunsaturated fatty acids due to abetalipoproteinemia is very effective
Bouquet, J., Klerk, J.B.C., Sinaasappel, M., Vreken, P.
Published in Journal of pediatric gastroenterology and nutrition (01.05.1999)
Published in Journal of pediatric gastroenterology and nutrition (01.05.1999)
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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency
de Wit, M.C.Y., de Coo, I.F.M., Verbeek, E., Schot, R., Schoonderwoerd, G.C., Duran, M., de Klerk, J.B.C., Huijmans, J.G.M., Lequin, M.H., Verheijen, F.W., Mancini, G.M.S.
Published in Molecular genetics and metabolism (01.02.2006)
Published in Molecular genetics and metabolism (01.02.2006)
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Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency
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.
Published in Human genetics (01.08.1999)
Published in Human genetics (01.08.1999)
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Severe acute necrotizing pancreatitis associated with lipoprotein lipase deficiency in childhood
van Walraven, L.A, de Klerk, J.B.C, Postema, R.R
Published in Journal of pediatric surgery (01.09.2003)
Published in Journal of pediatric surgery (01.09.2003)
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Therapy with docosahexaenoic acid and arachidonic acid in patients with profound deficiency of polyunsaturated fatty acids due to abetalipoproteinemia is very effective
Bouquet, J., de Klerk, J.B.C., Sinaasappel, M., Vreken, P.
Published in Journal of pediatric gastroenterology and nutrition (01.05.1999)
Published in Journal of pediatric gastroenterology and nutrition (01.05.1999)
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Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype
Scholte, H.R., Van Coster, R.N.A., de Jonge, P.C., Poorthuis, B.J.H.M., Jeneson, J.A.L., Andresen, B.S., Gregersen, N., de Klerk, J.B.C., Busch, H.F.M.
Published in Neuromuscular disorders : NMD (01.07.1999)
Published in Neuromuscular disorders : NMD (01.07.1999)
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L‐2‐Hydroxyglutaric aciduria: Normal L‐2‐hydroxyglutarate dehydrogenase activity in liver from two new patients
Wanders, R.J.A., Vilarinho, L., Hartung, H.P., Hoffmann, G.F., Mooijer, P.A.W., Jansen, G.A., Huijmans, J.G.M., Klerk, J.B.C., Brink, H.J., Jakobs, C., Duran, M.
Published in Journal of inherited metabolic disease (01.09.1997)
Published in Journal of inherited metabolic disease (01.09.1997)
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Rapid diagnosis of 3-hydroxy-3-methylglutaryl—coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method
Wanders, R.J.A., Zoeters, P.H.M., Schutgens, R.B.H., de Klerk, J.B.C., Duran, M., Wadman, S.K., van Sprang, F.J., Hemmes, A.M., Voorbrood, B.S.
Published in Clinica chimica acta (31.08.1990)
Published in Clinica chimica acta (31.08.1990)
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Esterase D: evaluation of a potential derived gene marker for hereditary retinoblastoma
Heiden, C.van der, Geurtzen, A.F.M., Brink, W., de Klerk, J.B.C., Beemer, F.A.
Published in Clinica chimica acta (31.03.1988)
Published in Clinica chimica acta (31.03.1988)
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Tetrahydrobiopterin Loading Test in Xanthine Dehydrogenase and Molybdenum Cofactor Deficiencies
Blau, N., de Klerk, J.B.C., Thöny, B., Heizmann, C.W., Kierat, L., Smeitink, J.A.M., Duran, M.
Published in Biochemical and molecular medicine (01.08.1996)
Published in Biochemical and molecular medicine (01.08.1996)
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