Author:
Sass Jörn Oliver,Walter Melanie,Shield Julian P. H.,Atherton Andrea M.,Garg Uttam,Scott David,Woods C. Geoffrey,Smith Laurie D.
Subject
Genetics (clinical),Genetics
Reference23 articles.
1. Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T (2005) Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet 13:1131–1136
2. Bennett MJ, Sherwood WG, Gibson KM, Burlina AB (1993) Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inherit Metab Dis 16:560–562
3. Boulat O, Benador N, Giraradin E, Bachmann C (1995) 3-Hydroxyisobutyryic aciduria with a mild clinical course. J Inherit Metab Dis 18:204–206
4. Brewster M, Goodman S, Rhead W, Brown G, Collie W, Bornhofen J (1991) Valine-related 3-hydroxyisobutyryic aciduria in twins. Proccedings of the Society for Inherited Metabolic Disorders 1991 (abstract)
5. Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM (2000) Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 23:497–504
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