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Journal of Inherited Metabolic Disease|December 22, 1999
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type II Baric, L Wagner, P Feyh, et al.Journal of Inherited Metabolic Disease|March 10, 1999
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic diseaseY Shoji, T Takahashi, Y Sawaishi, et al.Journal of Inherited Metabolic Disease|March 10, 1999
Severe skeletal complications in Japanese patients with type 1 Gaucher diseaseH Ida, O M Rennert, S Kato, et al.Journal of Inherited Metabolic Disease|December 16, 2000
Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan diseaseM H Baslow, R F Suckow, B L HungundJournal of Inherited Metabolic Disease|November 4, 2017
Impairment of astrocytic glutaminolysis in glutaric aciduria type IShoko Komatsuzaki, Raga Deepthi Ediga, Jürgen G Okun, et al.Journal of Inherited Metabolic Disease|November 8, 2017
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcomeRaphael Schiffmann, Mary E Wallace, Daisy Rinaldi, et al.Journal of Inherited Metabolic Disease|November 8, 2017
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6Mirco Dindo, Elisa Oppici, Daniele Dell'Orco, et al.Journal of Inherited Metabolic Disease|October 14, 2017
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disordersJochen Meyburg, Thomas Opladen, Ute Spiekerkötter, et al.Journal of Inherited Metabolic Disease|October 14, 2017
Lipoprotein-associated phospholipase A2 activity in obese adolescents with and without type 2 diabetesJulia Seyfarth, Thomas Reinehr, Annika Hoyer, et al.Journal of Inherited Metabolic Disease|November 25, 2017
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a dayNienke S Kienstra, Hannah E van Reemst, Willem G van Ginkel, et al.Pageof 429