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Journal of Inherited Metabolic Disease|September 30, 2020
Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European dataFemke Molema, Diego Martinelli, Friederike Hörster, et al.Journal of Inherited Metabolic Disease|July 7, 2021
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in JapanJun Kido, Shirou Matsumoto, Johannes Häberle, et al.Journal of Inherited Metabolic Disease|December 15, 2020
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxaGuido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, et al.Journal of Inherited Metabolic Disease|January 13, 2021
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiencyXin-Yi Liu, Xue-Jiao Chen, Miao Zhao, et al.Journal of Inherited Metabolic Disease|February 6, 2022
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorderSadie Hassall, Debbie Michelle Smith, Stewart Rust, et al.Journal of Inherited Metabolic Disease|February 10, 2022
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in JapanJun Kido, Johannes Häberle, Keishin Sugawara, et al.Journal of Inherited Metabolic Disease|February 17, 2022
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS methodFlorin Sasarman, Sacha Ferdinandusse, David S Sinasac, et al.Journal of Inherited Metabolic Disease|October 9, 2021
Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndromeJiajia Ji, Miriam L GreenbergJournal of Inherited Metabolic Disease|October 21, 2021
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type ITamara Mathis, Martin Poms, Harald Köfeler, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosisH D Bakker, H R Scholte, J A Jeneson, et al.Pageof 429