Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria

By Pospíšilová E.   Mrázová L.   Hrdá J.   Martincová O.   Zeman J.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 433-441

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult

By Reimão S.   Morgado C.   Almeida I.   Silva M.   Real H.   Campos J.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 49-52

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Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in - vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

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Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 133-140

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

By Wortmann Saskia   Kluijtmans Leo   Rodenburg Richard   Sass Jörn   Nouws Jessica   Kaauwen Edwin   Kleefstra Tjitske   Tranebjaerg Lisbeth   Vries Maaike   Isohanni Pirjo   Walter Katharina   Alkuraya Fowzan   Smuts Izelle   Reinecke Carolus   Westhuizen Francois   Thorburn David   Smeitink Jan   Morava Eva   Wevers Ron  

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

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