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Journal of Inherited Metabolic Disease|December 18, 2007
Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South AmericaC R Vargas, A Sitta, G Schmitt, et al.Pediatric Neurology|February 1, 1994
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunctionW J Craigen, C Jakobs, E A Sekul, et al.Pediatric Research|December 10, 1999
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiencyO Sakamoto, Y Suzuki, X Li, et al.Neurochemistry International|February 17, 2007
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)S W Sauer, S Kölker, G F Hoffmann, et al.Cell Stem Cell|May 7, 2016
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCsEunju Kang, Xinjian Wang, Rebecca Tippner-Hedges, et al.Journal of Inherited Metabolic Disease|July 17, 1999
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiencyL K Medina-Kauwe, A J Tobin, L De Meirleir, et al.Life Sciences|February 19, 2000
Treatment and survival study in the C57BL/6J-APC(Min)/+(Min) mouse with R-flurbiprofenW J Wechter, E D Murray, D Kantoci, et al.The Journal of Biological Chemistry|January 6, 1995
Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expressionK L Chambliss, D L Caudle, D D Hinson, et al.Journal of Human Genetics|February 24, 2001
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutationsX Yang, Y Aoki, X Li, et al.The Journal of Biological Chemistry|July 5, 1992
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduriaB L Schafer, R W Bishop, V J Kratunis, et al.Pageof 25