Mutations in the urocanase gene UROC1 are associated with urocanic aciduria
Espinós, C, Pineda, M, Martínez-Rubio, D, Lupo, V, Ormazabal, A, Vilaseca, M A, Spaapen, L J M, Palau, F, Artuch, R
Published in Journal of medical genetics (01.06.2009)
Published in Journal of medical genetics (01.06.2009)
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Journal Article
Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder
Spaapen, L. J. M., Bakker, J. A., der Meer, S. B., Sijstermans, H. J., Steet, R. A., Wevers, R. A., Jaeken, J.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
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Journal Article
Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome
Steijlen, P.M., Van Geel, M., Vreeburg, M., Marcus-Soekarman, D., Spaapen, L.J.M., Castelijns, F.C.M., Willemsen, M., Van Steensel, M.A.M.
Published in British journal of dermatology (1951) (01.12.2007)
Published in British journal of dermatology (1951) (01.12.2007)
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Journal Article
Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates
Spaapen, L. J. M., Bakker, J. A., Velter, C., Loots, W., Rubio‐Gonzalbo, M. E., Forget, P. P., Dorland, L., De Koning, T. J., Poll‐The, B. T., Ploos Van Amstel, H. K., Bekhof, J., Blau, N., Duran, M.
Published in Journal of inherited metabolic disease (01.06.2001)
Published in Journal of inherited metabolic disease (01.06.2001)
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Journal Article
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
VAN KUILENBURG, A. B. P, VREKEN, P, CHRISTENSEN, E, HOLOPAINEN, I, PULKKI, K, RIVA, D, BOTTEON, G, HOLME, E, TULINIUS, M, KLEIJER, W. J, BEEMER, F. A, DURAN, M, ABELING, N. G. G. M, NIEZEN-KONING, K. E, SMIT, G. P. A, JAKOBS, C, SMIT, L. M. E, MOOG, U, SPAAPEN, L. J. M, VAN GENNIP, A. H, BAKKER, H. D, MEINSMA, R, VAN LENTHE, H, DE ABREU, R. A, SMEITINK, J. A. M, KAYSERILI, H, APAK, M. Y
Published in Human genetics (01.01.1999)
Published in Human genetics (01.01.1999)
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Journal Article
Neuroleptic malignant syndrome during zuclopenthixol therapy in X‐linked cerebral adrenoleukodystrophy
Rubio‐Gozalbo, M. E., Waardenburg, D. A., Forget, P. P., Spaapen, L. J. M., Verrips, A., Vroomen, P. C. A. J.
Published in Journal of inherited metabolic disease (01.10.2001)
Published in Journal of inherited metabolic disease (01.10.2001)
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Journal Article
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy
Körver-Keularts, I. M. L. W., de Visser, M., Bakker, H. D., Wanders, R. J. A., Vansenne, F., Scholte, H. R., Dorland, L., Nicolaes, G. A. F., Spaapen, L. M. J., Smeets, H. J. M., Hendrickx, A. T. M., van den Bosch, B. J. C.
Published in JIMD Reports, Volume 22 (01.01.2015)
Published in JIMD Reports, Volume 22 (01.01.2015)
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Book Chapter
Journal Article
Early‐infantile type of galactosialidosis as a cause of heart failure and neonatal ascites
Claeys, M., Van Der Hoeven, M., Die‐Smulders>, C., Bakker, J. A., Offermans, J. P. M., Forget, P‐Ph, Groener, J. E. M., Spaapen, L. J. M.
Published in Journal of inherited metabolic disease (01.06.1999)
Published in Journal of inherited metabolic disease (01.06.1999)
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Journal Article
Carbohydrate-deficient transferrin values in neonatal and umbilical cord blood
van Pelt, J, Bakker, J A, Velmans, M H, Spaapen, L J
Published in Journal of inherited metabolic disease (01.01.1996)
Published in Journal of inherited metabolic disease (01.01.1996)
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Journal Article
Metabolic investigation of a patient with Rett syndrome
Vles, J S, Spaapen, L J, Schrander-Stumpel, C, van der Meer, S
Published in European journal of pediatrics (01.08.1989)
Published in European journal of pediatrics (01.08.1989)
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Journal Article
Partial N-acetyl-glutamate synthetase deficiency masquerading as a valproic acid-induced Reye-like syndrome
Forget, PPh, van Oosterhout, M, Bakker, JA, Wermuth, B, Vies, JSH, Spaapen, LJM
Published in Acta Paediatrica (01.12.1999)
Published in Acta Paediatrica (01.12.1999)
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Journal Article
N-acetyl-glutamate synthetase deficiency or porto-systemic shunt associated encephalopathy?
Dammers, R, Rubio-Gozalbo, ME, Robben, SGF, Bakker, JA, Spaapen, LJM, Forget, PPh
Published in Acta Paediatrica (01.01.2002)
Published in Acta Paediatrica (01.01.2002)
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Journal Article
Recurrence of nephrocalcinosis after renal transplantation in an adult patient with primary hyperoxaluria type I
Knols, G, Leunissen, K M, Spaapen, L J, Bosman, F T, vd Wiel, T W, Kootstra, G, van Hooff, J P
Published in Nephrology, dialysis, transplantation (1989)
Published in Nephrology, dialysis, transplantation (1989)
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Journal Article
A new case of purine nucleoside phosphorylase deficiency: enzymologic, clnical, and immunologic characteristics
RIJKSEN, G, KUIS, W, WADMAN, S. K, SPAAPEN, L. J. M, DURAN, M, VOORBROOD, B. S, STAAL, G. E. J, STOOP, J. W, ZEGERS, B. J. M
Published in Pediatric research (1987)
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Published in Pediatric research (1987)
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