Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

By Puisac Beatriz   Arnedo María   Casale Cesar   Ribate María   Castiella Tomás   Ramos Feliciano   Ribes Antonia   Pérez-Cerdá Celia   Casals Nuria   Hegardt Fausto   Pié Juan  

Journal of Inherited Metabolic Disease, Vol. 33, Iss. 4, 2010-08 ,pp. : 405-410

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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

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Journal of Inherited Metabolic Disease, Vol. 36, Iss. 6, 2013-11 ,pp. : 913-921

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OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria

By Neas K.   Bennetts B.   Carpenter K.   White R.   Kirk E.   Wilson M.   Kelley R.   Baric I.   Christodoulou J.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 4, 2005-06 ,pp. : 525-532

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Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

By Yano S.   Li L.   Le T.   Moseley K.   Guedalia A.   Lee J.   Gonzalez I.   Boles R.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 481-488

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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

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Journal of Inherited Metabolic Disease, Vol. 36, Iss. 6, 2013-11 ,pp. : 923-928

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