Methacrylic aciduria
Definition:
References:
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[1]. Ference J Loupatty, et al. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. Am J Hum Genet. 2007 Jan;80(1):195-9. [Content Brief]
[2]. Sacha Ferdinandusse, et al. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 4;8:188. [Content Brief]
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