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Emerging Topics in Life Sciences|February 1, 2021
Substrate reduction therapy for inborn errors of metabolismWyatt W Yue, Sabrina Mackinnon, Gustavo A BezerraHuman Mutation|July 29, 2017
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type IArunabha Ghosh, Jean Mercer, Sabrina Mackinnon, et al.Biochimie|July 14, 2020
Naturally occurring cobalamin (B<sub>12</sub>) analogs can function as cofactors for human methylmalonyl-CoA mutaseOlga M Sokolovskaya, Tanja Plessl, Henry Bailey, et al.Biochimie|February 17, 2021
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic diseaseSarah C Grünert, William Foster, Anke Schumann, et al.Journal of Inherited Metabolic Disease|June 10, 2019
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiencyIna Knerr, Roberto Colombo, Jill Urquhart, et al.Orphanet Journal of Rare Diseases|November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemiaMinela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.Pageof 1