Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency von Tabatabaie, L, Klomp, L. W. J, Rubio-Gozalbo, M. E, Spaapen, L. J. M, Haagen, A. A. M, Dorland, L, de Koning, T. J

Volltext

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria von Espinós, C, Pineda, M, Martínez-Rubio, D, Lupo, V, Ormazabal, A, Vilaseca, M A, Spaapen, L J M, Palau, F, Artuch, R

Volltext

Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome von 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.

Volltext

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.

Volltext

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.

Volltext

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

Volltext

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

Volltext

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy von 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.

Volltext

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.

Volltext

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.

Volltext

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.

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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.

Volltext

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

Volltext

RFLP haplotyping and mutation analysis of the phenylalamine hydroxylase gene in Dutch phenylketonuria families von MEIJER, H, JONGBLOED, R. J. E, HEKKING, M, SPAAPEN, L. J. M, GERAEDTS, J. P. M

Volltext

Playing hide and seek: Tumor cells in control of MHC class I antigen presentation von Jongsma, M.L.M., Neefjes, J., Spaapen, R.M.

Volltext

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

Volltext