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Journal of Inherited Metabolic Disease|January 1, 1987
Complementation studies with clinical and biochemical characterizations of a new variant of multiple sulphatase deficiencyA Tanaka, M Hirabayashi, M Ishii, et al.
Journal of Inherited Metabolic Disease|January 1, 1987
Haemodialysis for metabolic decompensation in propionic acidaemiaB Roth, A Younossi-Hartenstein, H Skopnik, et al.
Journal of Inherited Metabolic Disease|January 1, 1986
Lymphoid cell lines as a model system for the study of Wolman's disease: enzymatic, metabolic and ultrastructural investigationsA Nègre, R Salvayre, A Maret, et al.
Journal of Inherited Metabolic Disease|January 1, 1987
Phenylketonuria revisited: treatment of adults with behavioural manifestationsR L Brunner, E H Brown, H K Berry
Journal of Inherited Metabolic Disease|May 22, 2019
Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiencyJoanna Segal, Michael Mülleder, Antje Krüger, et al.
Journal of Inherited Metabolic Disease|May 24, 2019
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategiesHanneke A Haijes, Peter M van Hasselt, Judith J M Jans, et al.
Journal of Inherited Metabolic Disease|May 17, 2019
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studiesAnna Marcé-Grau, Laura Martí-Sánchez, Heidy Baide-Mairena, et al.
Journal of Inherited Metabolic Disease|January 1, 1986
3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a reviewS J Wysocki, R Hähnel
Journal of Inherited Metabolic Disease|January 1, 1986
Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetateY Kuroda, M Ito, K Toshima, et al.
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