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Article

Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.

Indian journal of pediatrics - 1 Jul 2024

Gupta Neerja, Endrakanti Mounika, Bhat Meenakshi, Rao Nivedita, Kaur Ravneet, Kabra Madhulika

Abstract excerpt

OBJECTIVES: To study the clinical and molecular spectrum of Methylmalonic acidemia (MMA). METHODS: In this retrospective study, the records of 30 MMA patients were evaluated for their phenotype, biochemical abnormalities, genotype, and outcomes. RESULTS: Thirty patients with MMA (age range 0-21 y) from 27 unrelated families were enrolled. Family history and consanguinity were noted in 10/27 (37%) and 11/27 (41%)...

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Source

Identifiers

PMID: 37420116
DOI: 10.1007/s12098-023-04651-4

Genes

MMAA
MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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