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Journal of Inherited Metabolic Disease|January 1, 1986
Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic formsG T Besley, M EllederJournal of Inherited Metabolic Disease|January 1, 1987
Normal dolichol concentration in urine sediments from four patients with neuronal ceroid lipofuscinosis (Batten's disease)B C Paton, A PoulosJournal of Inherited Metabolic Disease|January 1, 1987
Multiple implantation of normal amnion into cattle with generalized glycogenosis type IIJ M Howell, P R Dorling, P N Dimarco, et al.Journal of Inherited Metabolic Disease|January 1, 1987
The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblastsE Paschke, G Höfler, A RoscherJournal of Inherited Metabolic Disease|May 12, 2019
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethalityBijina Balakrishnan, Jan Verheijen, Arielle Lupo, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Liver-specific glucose-6-phosphatase is not present in human placentaY T Chen, T KatoJournal of Inherited Metabolic Disease|January 1, 1987
A sibship with a mild variant of Zellweger syndromeP G Barth, R B Schutgens, R J Wanders, et al.Journal of Inherited Metabolic Disease|January 1, 1988
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patientsK M Gibson, J Breuer, K Kaiser, et al.Journal of Inherited Metabolic Disease|June 22, 2019
The effectiveness of correcting abnormal metabolic profilesPeter Theodore ClaytonJournal of Inherited Metabolic Disease|June 29, 2017
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical noveltiesArianna Maiorana, Carlo Dionisi-ViciPageof 429