Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency von 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

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Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder von Spaapen, L. J. M., Bakker, J. A., der Meer, S. B., Sijstermans, H. J., Steet, R. A., Wevers, R. A., Jaeken, J.

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art von Spaapen, Leo J.M, Estela Rubio-Gozalbo, M

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Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates von 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.

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Recurrent leg ulcers in a young man with hyperhomocysteinemia, factor V Leiden and impaired fibrinolysis von KOLBACH, D. N, VERAART, J. C. J. M, HAMULYAK, K, SPAAPEN, L. J. M, NEUMANN, H. A. M

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Partial N-acetyl-glutamate synthetase deficiency masquerading as a valproic acid-induced Reye-like syndrome von Forget, PPh, van Oosterhout, M, Bakker, JA, Wermuth, B, Vies, JSH, Spaapen, LJM

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Unexplained familial benign methylmalonic aciduria von MARTENS, Daniëlle H. J, BAKKER, Jaap A, VAN DER MEER, Syb B, SPAAPEN, Leo J. M

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Are Children with Cystic Fibrosis Who Are Treated With a Proton-Pump Inhibitor at Risk for Vitamin B 12 Deficiency? von ter Heide, Henriëtte, Hendriks, Han J. E., Heijmans, Hiltje, Menheere, Paul P. C. A., Spaapen, Leo J. M., Bakker, Jaap A., Forget, Pierre-Philippe

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Neuroleptic malignant syndrome during zuclopenthixol therapy in X‐linked cerebral adrenoleukodystrophy von Rubio‐Gozalbo, M. E., Waardenburg, D. A., Forget, P. P., Spaapen, L. J. M., Verrips, A., Vroomen, P. C. A. J.

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N-acetyl-glutamate synthetase deficiency or porto-systemic shunt associated encephalopathy? von Dammers, R, Rubio-Gozalbo, ME, Robben, SGF, Bakker, JA, Spaapen, LJM, Forget, PPh

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Early‐infantile type of galactosialidosis as a cause of heart failure and neonatal ascites von 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.

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Carbohydrate‐deficient transferrin values in neonatal and umbilical cord blood von Pelt, J., Bakker, J. A., Velmans, M. H., Spaapen, L. J. M.

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Gas chromatography method for the separation of amino acids enantiomers in plasma and urine. Application in a case of short bowel syndrome von Ketting, D., Wadman, S.K., Spaapen, L.J.M., Van der Meer, S.B., Duran, M.

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RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families von Meijer, H, Jongbloed, R J, Hekking, M, Spaapen, L J, Geraedts, J P

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Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism von WENDEL, U, BAUMGARTNER, R, VAN DER MEER, S. B, SPAAPEN, L. J. M

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Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia von van der Meer, S B, Spaapen, L J, Fowler, B, Jakobs, C, Kleijer, W J, Wendel, U

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Urinary D‐4‐hydroxyphenyllactate, D‐phenyllactate and D‐2‐hydroxyisocaproate, abnormalities of bacterial origin von Spaapen, L. J. M., Ketting, D., Wadman, S. K., Bruinvis, L., Duran, M.

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Recurrence of nephrocalcinosis after renal transplantation in an adult patient with primary hyperoxaluria type I von KNOLS, G, LEUNISSEN, K. M. L, SPAAPEN, L. J. M, BOSMAN, F. T, WIEL, T. W. M, KOOTSTRA, G, VAN HOOFF, J. P

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Metabolic investigation of a patient with Rett syndrome von VLES, J. S. H, SPAAPEN, L. J. M, SCHRANDER-STUMPEL, C, VAN DER MEER, S

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The effect of deoxyguanosine on human lymphocyte function. I. Analysis of the interference with lymphocyte proliferation in vitro von Spaapen, LJ, Rijkers, GT, Staal, GE, Rijksen, G, Wadman, SK, Stoop, JW, Zegers, BJ

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