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Journal of Inherited Metabolic Disease|January 1, 1987
N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophyL Hagenfeldt, I Bollgren, N VenizelosJournal of Inherited Metabolic Disease|January 1, 1987
Argininosuccinic aciduria: long-term treatment with arginineH G Parsons, R B Scott, A Pinto, et al.Journal of Inherited Metabolic Disease|January 1, 1987
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystalsE Christensen, N J Brandt, T LaxdalJournal of Inherited Metabolic Disease|May 22, 2010
Isolated remethylation disorders: do our treatments benefit patients?Manuel Schiff, Jean-François Benoist, Bogdana Tilea, et al.Journal of Inherited Metabolic Disease|May 22, 2010
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening resultsRonald J A Wanders, Jos P N Ruiter, Lodewijk IJLst, et al.Journal of Inherited Metabolic Disease|May 22, 2010
Glycogen storage disease type III in the Irish populationEllen Crushell, Eileen P Treacy, J Dawe, et al.Journal of Inherited Metabolic Disease|May 25, 2010
Therapeutic liver repopulation for phenylketonuriaCary O Harding, K M GibsonJournal of Inherited Metabolic Disease|July 3, 2010
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophyOsvaldo Artigalás, Valeska Lizzi Lagranha, Maria Luiza Saraiva-Pereira, et al.Journal of Inherited Metabolic Disease|October 28, 2010
Gaucher disease in sheepLitsa Karageorgos, Malcolm J Lancaster, Judith S Nimmo, et al.Journal of Inherited Metabolic Disease|October 28, 2010
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutationsIrene Paradisi, Sergio AriasPageof 429