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Journal of Inherited Metabolic Disease|January 1, 1980
Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acidJ M Trijbels, L A Monnens, J A Bakkeren, et al.Journal of Inherited Metabolic Disease|January 1, 1980
TrimethylaminuriaE Spellacy, R W Watts, S K GoolamaliJournal of Inherited Metabolic Disease|January 1, 1981
Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activityT Page, B Bakay, E Nissinen, et al.Journal of Inherited Metabolic Disease|January 1, 1981
The adult presenting idiopathic Fanconi syndromeD P Brenton, D A Isenberg, D C Cusworth, et al.Journal of Inherited Metabolic Disease|January 1, 1981
Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French familyI Maire, A R Nivelon-ChevallierJournal of Inherited Metabolic Disease|January 1, 1980
Ascorbic acid: an unstable ninhydrin-positive urinary constituent running with valine in a commonly used screening systemR J Pollitt, B SandhuJournal of Inherited Metabolic Disease|January 1, 1980
Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acidsE W Naylor, L L Mosovich, R Guthrie, et al.Journal of Inherited Metabolic Disease|January 1, 1980
Reproductive counselling for adolescent females with phenylketonuriaK S Tice, E Wenz, K Jew, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysisM J Bennett, K M Gibson, W G Sherwood, et al.Journal of Inherited Metabolic Disease|January 1, 1993
The inherited leukodystrophies: a clinical overviewJ AicardiPageof 429