Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

Summary Methylmalonic acidaemia (MMA) is a genetic disorder caused by defects in methylmalonyl-CoA mutase or in any of the different proteins involved in the synthesis of adenosylcobalamin. The aim of this work was to examine the biochemical and clinical phenotype of 32 MMA patients according to the...

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Veröffentlicht in:	Journal of inherited metabolic disease 2008-02, Vol.31 (1), p.55-66
Hauptverfasser:	Merinero, B., Pérez, B., Pérez-Cerdá, C., Rincón, A., Desviat, L. R., Martínez, M. A., Sala, P. Ruiz, García, M. J., Aldamiz-Echevarría, L., Campos, J., Cornejo, V., del Toro, M., Mahfoud, A., Martínez-Pardo, M., Parini, R., Pedrón, C., Peña-Quintana, L., Pérez, M., Pourfarzam, M., Ugarte, M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alkyl and Aryl Transferases - genetics Amino Acid Metabolism, Inborn Errors - genetics Biochemistry Biomarkers - analysis Cell Line Cohort Studies Genetic Complementation Test Genotype Human Genetics Humans Infant Infant, Newborn Internal Medicine Medicine Medicine & Public Health Membrane Transport Proteins - genetics Metabolic Diseases Methylmalonic Acid - blood Methylmalonyl-CoA Mutase - classification Methylmalonyl-CoA Mutase - genetics Mitochondrial Membrane Transport Proteins Mitochondrial Proteins - genetics Mutation - physiology Original Article Pediatrics Vitamin B 12 - genetics
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