Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathyARTAN, R; VAN DIGGELEN, O. P; HUIJMANS, J. G. M et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 4, pp 437-438, issn 0141-8955Article

Effects of some hydroxylated sterols on the steroid production in isolated rat adrenal glomerulosa and fasciculata/reticularis cells in the presence of potassium. angiotensin II or ACTHHUIJMANS, J. G. M; FALKE, H. E; DEGENHART, H. J et al.Acta endocrinologica (Oslo). 1984, Vol 105, Num 3, pp 411-416, issn 0001-5598Article

Effect of 25-hydroxy-cholesterol on the uptake of corticosterone in isolated rat liver cellsHUIJMANS, J. G. M; DEGENHART, H. J; KORTLEVE, D. J et al.Hormone and metabolic research. 1988, Vol 20, Num 1, pp 28-31, issn 0018-5043Article

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome : Effect of treatmentHUIJMANS, J. G. M; DURAN, M; DE KLERK, J. B. C et al.Pediatrics (Evanston). 2000, Vol 106, Num 3, pp 596-600, issn 0031-4005Article

β-glucuronidase deficiency as a cause of fetal hydropsKAGIE, M. J; KLEIJER, W. J; HUIJMANS, J. G. M et al.American journal of medical genetics. 1992, Vol 42, Num 5, pp 693-695, issn 0148-7299Article

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesKLEIJER, W. J; GARRITSEN, V. H; CARDO, E et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 5, pp 399-410, issn 0141-8955, 12 p.Article

Fatal neonatal malonic aciduriaBUYUKGEBIZ, B; JAKOBS, C; SCHOLTE, H. R et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 1, pp 76-77, issn 0141-8955Article

Chromosomes 14 and 21 as possible cnadidates for mapping the gene for Sanfilippo disease type IIICZAREMBA, J; KLEIJER, W. J; HUIJMANS, J. G. M et al.Journal of medical genetics. 1992, Vol 29, Num 7, issn 0022-2593, p. 514Article

The detection of abnormal metabolites in MCAD deficiency : a new methodBLOM, W; POLDER-MOL, A. C; KELHOLT-DIJKMAN, H. H et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 3, pp 315-320, issn 0141-8955, 6 p.Article

First-trimester diagnosis of Morquio disease type aKLEIJER, W. J; GEILEN, G. C; GARRITSEN, V et al.Prenatal diagnosis. 2000, Vol 20, Num 3, pp 183-185, issn 0197-3851Article

Juvenile hyaline fibromatosis : Clinical heterogeneity in three patientsMANCINI, G. M. S; STOJANOV, L; WILLEMSEN, R et al.Dermatology (Basel). 1999, Vol 198, Num 1, pp 18-25, issn 1018-8665Article

Clinical, biochemical and molecular findings in a two-generation Morquio A familyTYLKI-SZYMANSKA, A; CZARTORYSKA, B; BUNGE, S et al.Clinical genetics. 1998, Vol 53, Num 5, pp 369-374, issn 0009-9163Article

Intracellular amino acid concentrations in children with chronic renal insufficiencyKIST-VAN HOLTHE TOT ECHTEN, J. E; HUIJMANS, J. G. M; HOP, W. C. J et al.Pediatric nephrology (Berlin, West). 1996, Vol 10, Num 1, pp 46-50, issn 0931-041XConference Paper

Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndromeWANDERS, R. J. A; VAN ROERMUND, C. W. T; WOLFF, E. D et al.Clinica chimica acta. 1987, Vol 165, Num 2-3, pp 311-319, issn 0009-8981Article

Peritoneal Protein Losses and Cytokine Generation in Automated Peritoneal Dialysis with Combined Amino Acids and Glucose SolutionsTJIONG, H. L; ZIJLSTRA, F. J; RIETVELD, T et al.Mediators of inflammation. 2007, Vol 2007, Num 2, pp 1-5, issn 0962-9351, 5 p.Article

L-2-hydroxyglutaric aciduria : Clinical heterogeneity versus biochemical homogeneity in a sibshipDE KLERK, J. B. C; HUIJMANS, J. G. M; STROINK, H et al.Neuropediatrics. 1997, Vol 28, Num 6, pp 314-317, issn 0174-304XConference Paper

Identification of glycosaminoglycans in age-related macular depositsKLIFFEN, M; MOOY, C. M; LUIDER, T. M et al.Archives of ophthalmology (1960). 1996, Vol 114, Num 8, pp 1009-1014, issn 0003-9950Article

Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liverSCHOLTE, H. R; ROSS, J. D; PRZYREMBEL, H et al.Journal of inherited metabolic disease. 1992, Vol 15, Num 3, pp 347-352, issn 0141-8955Conference Paper

Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnanciesKLEIJER, W. J; BLOM, W; HUIJMANS, J. G. M et al.Prenatal diagnosis. 1984, Vol 4, Num 2, pp 113-118, issn 0197-3851Article

A clinical biochemist's view of the investigation of suspected inherited metabolic diseaseBLOM, W; HUIJMANS, J. G. M; VAN DEN BERG, G. B et al.Journal of inherited metabolic disease. 1989, Vol 12, Num 1, pp 64-88, issn 0141-8955, 25 p.Article

Albumin and whole-body protein synthesis respond differently to intraperitoneal and oral amino acidsTJIONG, H. L; FIEREN, M. W; RIETVELD, T et al.Kidney international. 2007, Vol 72, Num 3, pp 364-369, issn 0085-2538, 6 p.Article

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assayKEULEMANS, J. L. M; SINIGERSKA, I; GARRITSEN, V. H et al.Prenatal diagnosis. 2002, Vol 22, Num 11, pp 1016-1021, issn 0197-3851, 6 p.Article

Amniotic fluid odd-chain fatty acids are increased in propionic acidaemiaCOKER, M; DURAN, M; DE KLERK, J. B. C et al.Prenatal diagnosis. 1996, Vol 16, Num 10, pp 941-944, issn 0197-3851Article

The role of nitric oxide in bacterial meningitis in childrenKORNELISSE, R. F; HOCKEMAN, K; VISSER, J. J et al.The Journal of infectious diseases. 1996, Vol 174, Num 1, pp 120-126, issn 0022-1899Article

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimestersKLEIJER, W. J; VAN DER KRAAN, M; HUIJMANS, J. G. M et al.Prenatal diagnosis. 1995, Vol 15, Num 6, pp 527-533, issn 0197-3851Article