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Journal of Inherited Metabolic Disease|February 8, 2017
Recent advances in liver transplantation for metabolic diseaseP J Mc KiernanJournal of Inherited Metabolic Disease|March 2, 2017
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse modelsSara TucciJournal of Inherited Metabolic Disease|December 22, 2021
Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophyLara Duran-Trio, Gabriella Fernandes-Pires, Jocelyn Grosse, et al.Journal of Inherited Metabolic Disease|November 25, 2021
Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathyKathryn C Chatfield, Genevieve C Sparagna, Kalyn S Specht, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Alterations of NAD and adenylyl dinucleotide metabolism in Chediak-Higashi syndrome fibroblastsJ C Baker, B N AmesJournal of Inherited Metabolic Disease|January 1, 1988
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine familiesD T Keough, R B Gordon, J de Jersey, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSFR A Harkness, G M McCreanor, R W WattsJournal of Inherited Metabolic Disease|January 1, 1988
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospitalG C Yadav, P C ReaveyJournal of Inherited Metabolic Disease|October 11, 2022
Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry diseaseTakashi Miyajima, Ryo Saito, Hiroko Yanagisawa, et al.Journal of Inherited Metabolic Disease|October 11, 2022
Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiencyAdam J Belanger, Estelle Gefteas, Malgorzata Przybylska, et al.Pageof 429