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Article

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.

BMC pediatrics - 4 Dec 2024

Beyzaei Zahra, Moravej Hossein, Imanieh Mohammad Hadi, Inaloo Sorour, Geramizadeh Bita

Abstract excerpt

OBJECTIVE: Methylmalonic acidemia (MMAs) is known as a severe, complex, and lethal disorder of methylmalonate and cobalamin. The patients with MMA may have developmental, neurological, and metabolic disorders such as liver disease. Here, we aim to evaluate 6 Iranian patients suspected to MMA disorder. STUDY DESIGN: We will provide genetic results, biochemical analysis and treatment for these patients. Liquid...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39633313
DOI: 10.1186/s12887-024-05291-z
PMCID: PMC11616211

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