Showing results (81-90 of 248) with videos related to
Sort By:
Pageof 25
Journal of Inherited Metabolic Disease|April 16, 2024
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathyMelanie B Gillingham, Dongseok Choi, Ashley Gregor, et al.Stem Cell Research|June 1, 2014
Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver diseaseRaymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.Molecular Genetics and Metabolism|February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screeningJ Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.Pediatric Research|October 1, 1988
Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduriaP P Pattarelli, W L Nyhan, K M GibsonNutrients|September 28, 2023
Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with PhenylketonuriaJúlio César Rocha, Kirsten K Ahring, Heather Bausell, et al.European Journal of Pediatrics|January 1, 1994
Screening for defects of branched-chain amino acid metabolismK M Gibson, C F Lee, G F HoffmannJournal of Virological Methods|May 1, 1991
A simple and rapid method for detecting human immunodeficiency virus by PCRK M Gibson, K A McLean, J P ClewleyComparative Biochemistry and Physiology. Part A, Physiology|October 1, 1995
gamma-Aminobutyric acid (GABA) metabolism in mammalian neural and nonneural tissuesN J Tillakaratne, L Medina-Kauwe, K M GibsonJournal of Inherited Metabolic Disease|January 1, 1996
Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA)D Matern, W Lehnert, K M Gibson, et al.Molecular Genetics and Metabolism Reports|November 24, 2021
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trialsBarbara K Burton, Anne Skalicky, Christoph Baerwald, et al.Pageof 25