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Molecular Genetics and Metabolism|October 2, 2020
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspectiveMohamed A Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, et al.Journal of Inherited Metabolic Disease|March 29, 2026
Heritability of Long-Term Complications in Classic GalactosemiaOlivia S Garrett, Nicole H Smith, David J Cutler, et al.Journal of Medical Genetics|January 24, 2018
Catalogue of inherited disorders found among the Irish Traveller populationSally Ann Lynch, Ellen Crushell, Deborah M Lambert, et al.Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.Journal of Inherited Metabolic Disease|November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upLindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.Molecular Genetics and Metabolism|March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.Human Mutation|July 13, 2006
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentSonja C Stadler, Roman Polanetz, Esther M Maier, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.Orphanet Journal of Rare Diseases|January 12, 2013
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah C Grünert, Stephanie Müllerleile, Linda De Silva, et al.Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.Pageof 8