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Orphanet Journal of Rare Diseases|August 12, 2024
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuriaKaleigh B Whitehall, Sarah Rose, Gillian E Clague, et al.Neurochemistry International|June 18, 2016
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolismP Malaspina, J-B Roullet, P L Pearl, et al.Pediatric Research|November 1, 1990
3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiencyP Iden, B Middleton, B H Robinson, et al.The Journal of Biological Chemistry|October 23, 1997
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiencyD D Hinson, K L Chambliss, G F Hoffmann, et al.European Journal of Pediatrics|January 1, 1994
Neurological manifestations of organic acid disordersG F Hoffmann, K M Gibson, F K Trefz, et al.American Journal of Human Genetics|July 31, 1998
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)K L Chambliss, D D Hinson, F Trettel, et al.Plos One|January 25, 2021
Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editingRobert A Kaiser, Daniel F Carlson, Kari L Allen, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduriaG F Hoffmann, S U Brendel, S R Scharfschwerdt, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric aciduriasE A Struys, N M Verhoeven, H J Ten Brink, et al.European Journal of Pediatrics|December 1, 1988
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduriaK M Gibson, G Hoffmann, W L Nyhan, et al.Pageof 25