Search Results - "Spaapen, L J M"

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

“…3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and…”
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Mutations in the urocanase gene UROC1 are associated with urocanic aciduria by Espinós, C, Pineda, M, Martínez-Rubio, D, Lupo, V, Ormazabal, A, Vilaseca, M A, Spaapen, L J M, Palau, F, Artuch, R

“…Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.R450C, in the…”
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Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder by Spaapen, L. J. M., Bakker, J. A., der Meer, S. B., Sijstermans, H. J., Steet, R. A., Wevers, R. A., Jaeken, J.

“…Summary Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins…”
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Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome by 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.

“…Summary Background  Conradi–Hünermann–Happle syndrome [X‐linked dominant chondrodysplasia punctata type 2 (CDPX2); MIM no. 302960] is an X‐linked dominant…”
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Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates by 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.

“…Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 μmol/L) were investigated further to differentiate between…”
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Recurrent leg ulcers in a young man with hyperhomocysteinemia, factor V Leiden and impaired fibrinolysis by KOLBACH, D. N, VERAART, J. C. J. M, HAMULYAK, K, SPAAPEN, L. J. M, NEUMANN, H. A. M

“…We present a young male patient referred to our hospital with leg ulcers on both legs that were more than 3 years refractory to standard treatment with…”
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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency by 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

“…Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has…”
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Neuroleptic malignant syndrome during zuclopenthixol therapy in X‐linked cerebral adrenoleukodystrophy by Rubio‐Gozalbo, M. E., Waardenburg, D. A., Forget, P. P., Spaapen, L. J. M., Verrips, A., Vroomen, P. C. A. J.

“…An 8 year‐old boy with X‐ALD under treatment with simvastatin developed a severe adverse reaction when the dose of his other medication, zuclopenthixol was…”
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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy by 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.

“…In a 28-year-old male with a mild mitochondrial myopathy manifesting as exercise intolerance and early signs of cardiomyopathy without muscle weakness or…”
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Urinary D‐4‐hydroxyphenyllactate, D‐phenyllactate and D‐2‐hydroxyisocaproate, abnormalities of bacterial origin by Spaapen, L. J. M., Ketting, D., Wadman, S. K., Bruinvis, L., Duran, M.

“…Summary Analysis of urinary organic acids in patients admitted for screening for inborn errors of metabolism incidentally revealed the presence of abnormal…”
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Early‐infantile type of galactosialidosis as a cause of heart failure and neonatal ascites by 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 by Pelt, J., Bakker, J. A., Velmans, M. H., Spaapen, L. J. M.

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

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

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

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RFLP haplotyping and mutation analysis of the phenylalamine hydroxylase gene in Dutch phenylketonuria families by MEIJER, H, JONGBLOED, R. J. E, HEKKING, M, SPAAPEN, L. J. M, GERAEDTS, J. P. 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 by Ketting, D, Wadman, S K, Spaapen, L J, Van der Meer, S B, Duran, M

“…Urinary amino acids were isolated from the urine of healthy controls and a patient with a short bowel syndrome. Following derivatization with isopropyl…”
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Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism by WENDEL, U, BAUMGARTNER, R, VAN DER MEER, S. B, SPAAPEN, L. J. M

“…Fetuses affected with propionic acidemia incorporate great amounts of odd-numbered long-chain fatty acids (OLCFA) into their body lipids. This is due to…”
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Recurrence of nephrocalcinosis after renal transplantation in an adult patient with primary hyperoxaluria type I by Knols, G, Leunissen, K M, Spaapen, L J, Bosman, F T, vd Wiel, T W, Kootstra, G, van Hooff, J P

“…The medical history of a 42-year-old patient with primary hyperoxaluria type I is presented. Primary hyperoxaluria was suspected after renal transplantation,…”
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A new case of purine nucleoside phosphorylase deficiency: enzymologic, clnical, and immunologic characteristics by 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

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