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Seminars in Perinatology|April 21, 2015
Newborn screening for lysosomal storage disordersDietrich Matern, Dimitar Gavrilov, Devin Oglesbee, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 22, 2009
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapyJ Lawrence Merritt, Tien Nguyen, Jan Daniels, et al.
Molecular Genetics and Metabolism|September 15, 2020
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPDGabriela Elizondo, Dietrich Matern, Jerry Vockley, et al.
Journal of Crohn'S & Colitis|September 25, 2012
Enzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: implications for gut healthPrem S Shekhawat, Srinivas Sonne, A Lee Carter, et al.
Molecular Genetics and Metabolism|August 24, 2019
Rare Saposin A deficiency: Novel variant and psychosine analysisLaurel Calderwood, David A Wenger, Dietrich Matern, et al.
Human Gene Therapy|February 6, 2015
Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectorsAdam J Guenzel, Renata Collard, Jan P Kraus, et al.
Molecular Genetics and Metabolism|December 14, 2004
Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidationA Michele Schuler, Barbara A Gower, Dietrich Matern, et al.
Molecular Genetics and Metabolism|July 29, 2014
Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programsVíctor R De Jesús, Barbara W Adam, Daniel Mandel, et al.
Analytical and Bioanalytical Chemistry|August 27, 2024
A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosisJinyong Kim, Seul Kee Byeon, Devin Oglesbee, et al.
American Journal of Physiology. Endocrinology and Metabolism|September 26, 2013
Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorderMelanie B Gillingham, Cary O Harding, Dale A Schoeller, et al.
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