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The Journal of Pediatrics|January 1, 1994
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblastsA B Burlina, C Dionisi-Vici, M J Bennett, et al.American Journal of Human Genetics|July 27, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestryD D Hinson, R M Ross, S Krisans, et al.Journal of Inherited Metabolic Disease|January 28, 2009
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and menP L Pearl, K M Gibson, M A Cortez, et al.European Journal of Pediatrics|October 1, 1988
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normalK M Gibson, W L Nyhan, L Sweetman, et al.American Journal of Human Genetics|April 16, 1998
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41QG A Mitchell, P T Ozand, M F Robert, et al.The Journal of Pediatrics|June 1, 1991
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduriaK M Gibson, W G Sherwood, G F Hoffman, et al.Molecular Genetics and Metabolism Reports|June 27, 2017
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluidsC Wernli, S Finochiaro, C Volken, et al.Journal of Inherited Metabolic Disease|November 17, 2007
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndromeE J Hager, H M Tse, J D Piganelli, et al.Molecular Genetics and Metabolism|January 31, 2006
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?E A Struys, N M Verhoeven, G S Salomons, et al.Molecular Genetics and Metabolism|August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trialsSandesh C S Nagamani, George A Diaz, William Rhead, et al.Pageof 25