W. Blom

发表

SCHIZOPHRENIA-LIKE PSYCHOSIS CAUSED BY A METABOLIC DISORDER

P. Moleman, L. Pepplinkhuizen, W. Blom, 1980, The Lancet.

α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder

H. Galjaard, D. Schindler, W. Kleijer, 1988, Journal of Inherited Metabolic Disease.

The intravenous L-alanine tolerance test as a means for investigating gluconeogenesis.

J. Fernandes, W. Blom, 1974, Metabolism: clinical and experimental.

D-Lactic acidosis in a boy with short bowel syndrome.

M. Giesberts, W. Blom, E. Schoorel, 1980, Archives of disease in childhood.

Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver

J. Verstegen, W. Kleijer, O. Diggelen, 1992, Journal of Inherited Metabolic Disease.

Parenteral Nutrition in Low-Birth Weight Infants

W. Blom, H. Visser, T. Zurcher, 1973 .

Heterozygous cystinuria and calcium oxalate urolithiasis.

K. Kurth, W. Blom, J. Huijmans, 1983, The Journal of urology.

Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

B K Burton, H M Cann, H. Cann, 1982, The New England journal of medicine.

The detection of abnormal metabolites in MCAD deficiency: a new method

W. Blom, J. Huijmans, A. C. Polder-Mol, 1990, Journal of Inherited Metabolic Disease.

A clinical biochemist's view of the investigation of suspected inherited metabolic disease

W. Blom, J. Huijmans, G. Berg, 1989, Journal of Inherited Metabolic Disease.

Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin

M. Giesberts, H. Scholte, H. Przyrembel, 1984, European Journal of Pediatrics.

Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis.

H. Scholte, W Blom, S M de Muinck Keizer, 1981, The New England journal of medicine.

Early prenatal diagnosis of congenital hypophosphatasia: Case report

J. Wladimiroff, P. Stewart, F. Versteegh, 1985, Prenatal diagnosis.

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. Huijmans, M. Loonen, 1983, Clinica chimica acta; international journal of clinical chemistry.

Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. II. Clinical aspects.

M. Brocaar, J. Verschuure, M. Niermeijer, 1985, Audiology : official organ of the International Society of Audiology.

Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

W. Kleijer, M. Niermeijer, W. Blom, 1984, Prenatal diagnosis.

β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

W. Kleijer, O. Diggelen, W. Blom, 1990, Journal of Inherited Metabolic Disease.

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid β-galactosidase deficiency. Report of three cases in one family

W. Kleijer, M. Giesberts, W. Blom, 2004, Human Genetics.

Folic acid dependent hypersarcosinaemia.

J. Fernandes, W. Blom, 1979, Clinica chimica acta; international journal of clinical chemistry.

Morquio B syndrome: a primary defect in β-galactosidase

W. Blom, A. Hoogeveen, W. Kleijer, 1983 .

Differential diagnosis of (inherited) amino acid metabolism or transport disorders

W. Blom, J. Huijmans, 1992, Amino Acids.

Prenatal diagnosis of Sanfilippo disease type B

J. Zaremba, W. Blom, J. Kubalska, 2004, Human Genetics.

Glutaric Aciduria Type II: Multiple Defects in Isolated Muscle Mitochondria and Deficient β-Oxidation in Fibroblasts

M. Giesberts, H. Scholte, H. Przyrembel, 1984 .

An X linked (cardio) myopathy and granulocytopenia, with a low succinate cytochrome-c-reductase and cytochrome-c-oxidase activity in skeletal muscle

M. Witsenburg, H. Scholte, W. Blom, 1984, Clinical Neurology and Neurosurgery.

Hyperprolactinemia in hepatic encephalopathy: the effect of infusion of an amino acid mixture with excess branched chain amino acids.

S. Lamberts, J. Wilson, W. Blom, 1983, Hepato-gastroenterology.

Successful treatment of severe OTC deficiency.

R. Berger, W. Blom, A. Brubakk, 1982, The Journal of pediatrics.

Urinary lactate excretion in normal children and in children with enzyme defects of carbohydrate metabolism.

J. Fernandes, W. Blom, 1976, Clinica chimica acta; international journal of clinical chemistry.

Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder.

W. Blom, J. Huijmans, G. B. van den Berg, 1985 .