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Article

Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.

Indian journal of pediatrics - 1 Dec 2021

Gupta Ambika, Kabra Madhulika, Gupta Neerja

Abstract excerpt

Combined methylmalonic aciduria and homocystinuria, cblC type, (MAHCC) is a rare autosomal recessive metabolic disorder of remethylation caused due to mutations in the MMACHC (metabolism of cobalamin associated C) gene with predominant neurological involvement. Microvascular, renal, and cardiovascular complications are also known to occur. However, the disease presenting primarily with a cardiovascular phenotype...

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Identifiers

PMID: 34510336
DOI: 10.1007/s12098-021-03938-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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