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American Journal of Medical Genetics|September 5, 2002
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathyAnne-Marie Lamhonwah, Simon E Olpin, Rodney J Pollitt, et al.Brain : a Journal of Neurology|March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathySietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.Proceedings of the National Academy of Sciences of the United States of America|March 17, 2004
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolismIvo Baric, Ksenija Fumic, Byron Glenn, et al.CPT: Pharmacometrics & Systems Pharmacology|March 17, 2025
Comparison of Model-Predicted and Observed Evinacumab Pharmacokinetics and Efficacy in Children Aged < 5 Years With Homozygous Familial HypercholesterolemiaSébastien Bihorel, Robert Dingman, Jeanne Mendell, et al.American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.Frontiers in Pediatrics|May 24, 2021
Current Status of Newborn Screening in Southeastern EuropeVanesa Koracin, Matej Mlinaric, Ivo Baric, et al.Journal of Clinical Immunology|August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell DeficiencyDominic Lenz, Jens Pahl, Fabian Hauck, et al.Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.Orphanet Journal of Rare Diseases|May 31, 2015
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countriesMojca Zerjav Tansek, Urh Groselj, Natalija Angelkova, et al.Journal of Inherited Metabolic Disease|March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesPatricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.Pageof 3