Wikipedia: Glutaric aciduria type 1

Uniprot: Q92947

OMIM: Entry 231670

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Biery BJ, Stein DE, Morton DH, Goodman SI: Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet. 1996 Nov;59(5):1006-11.

Hedlund GL, Longo N, Pasquali M: Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088.

Zschocke J, Quak E, Guldberg P, Hoffmann GF: Mutation analysis in glutaric aciduria type I. J Med Genet. 2000 Mar;37(3):177-81.

Uniprot: Q9HAC7

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Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG: Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet. 2008 Nov;83(5):604-9. doi: 10.1016/j.ajhg.2008.09.018.

Hoffmann GF, Zschocke J: Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis. 1999 Jun;22(4):381-91.

Koeller DM, Woontner M, Crnic LS, Kleinschmidt-DeMasters B, Stephens J, Hunt EL, Goodman SI: Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet. 2002 Feb 15;11(4):347-57.

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Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, Yaplito-Lee J, Ferdinandusse S, Pitt J: ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Brain. 2014 Nov;137(Pt 11):2903-8. doi: 10.1093/brain/awu216. Epub 2014 Aug 14.

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