Researcher profile · Semantic Scholar

W. Blom

h-index: 15
Works: 42
Citations: 598

Most-cited papers

D-Lactic acidosis in a boy with short bowel syndrome.
E. Schoorel, M. Giesberts, W. Blom, H. vanGelderen
1980Archives of Disease in Childhood72 citations Open access
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Schizophrenia-like psychosis caused by a metabolic disorder.
L. Pepplinkhuizen, W. Blom, J. Bruinvels, P. Moleman
1980The Lancet46 citations
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Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease).
W. Blom, J. Luteyn, H. H. Kelholt-Dijkman, J. Huijmans +1 more
1983Clinica chimica acta; international journal of clinical chemistry37 citations
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Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome.
R. Wanders, C. W. V. van Roermund, R. Westra, R. Schutgens +10 more
1987Clinica chimica acta; international journal of clinical chemistry34 citations
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Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies
W. Kleijer, W. Blom, J. Huijmans, M. C. T. Mooyman +2 more
1984Prenatal Diagnosis29 citations
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Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis.
W. Blom, S. M. de Muinck Keizer, H. Scholte
1981New England Journal of Medicine27 citations
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Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia
A. Roodhooft, E. Baumgartner, J. Martín, W. Blom +1 more
1990European Journal of Pediatrics26 citations
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The intravenous L-alanine tolerance test as a means for investigating gluconeogenesis.
J. Fernandes, W. Blom
1974Metabolism: Clinical and Experimental26 citations
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Early prenatal diagnosis of congenital hypophosphatasia: Case report
J. Wladimiroff, M. Niermeijer, J. J. van der Harten, Patricia A. Stewart +3 more
1985Prenatal Diagnosis25 citations
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β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother
W. Kleijer, P. Hu, R. Thoomes, M. Boer +5 more
1990Journal of Inherited Metabolic Disease24 citations Open access
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alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.
O. V. van Diggelen, D. Schindler, R. Willemsen, M. Boer +4 more
1988Journal of Inherited Metabolic Disease22 citations
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Urinary lactate excretion in normal children and in children with enzyme defects of carbohydrate metabolism.
J. Fernandes, W. Blom
1976Clinica chimica acta; international journal of clinical chemistry22 citations
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Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. II. Clinical aspects.
W. S. I. M. van den Wijngaart, E. Huizing, M. Niermeijer, J. Verschuure +2 more
1985Audiology19 citations
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Parenteral Nutrition in Low-Birth Weight Infants
H. K. Visser, W. Blom, J. V. van Gils, T. Zurcher
197317 citations
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Heterozygous cystinuria and calcium oxalate urolithiasis.
P. Carpentier, K. Kurth, W. Blom, J. Huijmans
1983Journal of Urology16 citations
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Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin
P. Mooy, H. Przyrembel, M. Giesberts, H. Scholte +2 more
1984European Journal of Pediatrics14 citations
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Differential diagnosis of (inherited) amino acid metabolism or transport disorders
W. Blom, J. Huijmans
1992Amino Acids13 citations Open access
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Glutaric Aciduria Type II: Multiple Defects in Isolated Muscle Mitochondria and Deficient β-Oxidation in Fibroblasts
P. Mooy, M. Giesberts, H. H. van Gelderen, H. Scholte +3 more
198413 citations
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Morquio B syndrome: a primary defect in beta-galactosidase.
G. V. D. van der Horst, W. Kleijer, A. Hoogeveen, J. Huijmans +2 more
1983American journal of medical genetics12 citations
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Morquio-B disease, spondyloepiphyseal dysplasia associated with acid β-galactosidase deficiency. Report of three cases in one family
J. V. van Gemund, M. Giesberts, R. F. Eerdmans, W. Blom +1 more
2004Human Genetics11 citations
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A clinical biochemist's view of the investigation of suspected inherited metabolic disease
W. Blom, J. Huijmans, G. Berg
1989Journal of Inherited Metabolic Disease11 citations
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Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver
H. Scholte, J. D. Ross, W. Blom, A. M. C. Boonman +9 more
1992Journal of Inherited Metabolic Disease9 citations
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Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder.
W. Blom, G. B. van den Berg, J. Huijmans, J. A. R. Sanders-Woudstra
19859 citations
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Enzymatic evidence for a medium-chain acyl-CoA dehydrogenase deficiency in muscle of a patient with hypoketotic hypoglycemic dicarboxylic aciduria
J. Huijmans, Hans R. Scholte, W. Blom, I. E. M. Luyt-Houwaen +1 more
1984Pediatric Research9 citations
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Successful treatment of severe OTC deficiency.
Ann-Mari Brubakk, Leine L. Teijema, W. Blom, Ruud Berger
1982Jornal de Pediatria9 citations
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Folic acid dependent hypersarcosinaemia.
W. Blom, J. Fernandes
1979Clinica chimica acta; international journal of clinical chemistry8 citations
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Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient beta-oxidation in fibroblasts.
P. Mooy, M. Giesberts, H. H. van Gelderen, H. Scholte +3 more
1984Journal of Inherited Metabolic Disease7 citations
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The detection of abnormal metabolites in MCAD deficiency: a new method
W. Blom, A. C. Polder-Mol, H. H. Kelholt-Dijkman, L. Hierck +1 more
1990Journal of Inherited Metabolic Disease6 citations
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Hyperprolactinemia in hepatic encephalopathy: the effect of infusion of an amino acid mixture with excess branched chain amino acids.
A. Bauer, J. H. Wilson, S. Lamberts, W. Blom
1983Hepato-Gastroenterology5 citations
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Neurologic action of megadoses of vitamins.
W. Blom, G. B. van den Berg, J. Huijmans, H. Przyrembel +3 more
1986Bibliotheca Nutritio et Dieta4 citations
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An X linked (cardio) myopathy and granulocytopenia, with a low succinate cytochrome-c-reductase and cytochrome-c-oxidase activity in skeletal muscle
C. D. de Groot, G. E. Beaufort-Krol, W. Arts, W. Blom +2 more
19843 citations
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Free amino acid levels of mother and child immediately after delivery in Dar es Salaam, Tanzania.
E. Boersma, W. Blom, A. Massawe
1980Biology of the Neonate3 citations
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Prenatal diagnosis of Sanfilippo disease type B
W. Kleijer, J. Huijmans, W. Blom, D. Górska +3 more
2004Human Genetics2 citations
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Defects in Mitochondrial Beta Oxidation a
Hans R. Scholte, I. E. M. Luyt-Houwen, W. Blom, H. F. Busch +9 more
19862 citations
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Cytochrome (cyt) cl deficiency in liver and muscle mitochondria
H. Przyrembel, Hans R. Scholte, H. F. Busch, W. Blom +3 more
1984Pediatric Research2 citations
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Ophthalmological abnormalities in (relatives of) patients with familial intracranial aneurysms: A collagen deficiency?
J. T. ter Berg, G. J. Van Meel, W. Blom, S. N. Berengolz +3 more
19891 citations
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Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder
W. Blom, G. Berg, J. Huijmans, J. Sanders-Woudstra
1985Journal of Inherited Metabolic Disease1 citations
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Congenital cystic dilatation of the intrahepatic bile ducts (Caroli's disease).
G. I. D. der Maur, B. J. Zuidema, S. Duursma, W. Blom
1978Radiologia clinica1 citations
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THE INTRAVENOUS L-ALANINE TOLERANCE TEST AS A MEANS FOR TESTING GLUCONEOGENESIS
J. Fernandes, W. Blom
1974Pediatric Research1 citations
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ONE YEAR SUCCESSFUL TREATMENT OF INFANTILE PRIMARY HYPEROXALURIA TYPE I
F. D. de Zegher, R. Chalmers, W. Blom, J. Huijmans +3 more
1985Pediatric Research0 citations
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698 THERAPY OF NEONATAL ONSET UREA CYCLE ENZYMOPATHIES, (UCE)
Mark Batahaw, G. Sproul, P. Mamunes, W. Blom +6 more
1981Pediatric Research0 citations
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Evaluation of the Philips Hb oximeter
W. Blom, V. H. Villeneuve
1974Medical & Biological Engineering0 citations
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