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Article

Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

European journal of pediatrics - 1 Mar 1990

Ribes A, Briones P, Vilaseca M A, Lluch M, Rodes M, Maya A, Campistol J, Pascual P, Suormala T, Baumgartner R

Abstract excerpt

A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described. Therapy with hydroxycobalamin, folate and vitamin B6 improved his condition. As hypomethioninaemia and homocystinaemia persisted, he was treated with intramuscular methylcobalamin, but without success. Treatment with betaine started at 25 months of age, normalized plasma methionine and elicited disappearance of...

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Identifiers

PMID: 2332011
DOI: 10.1007/BF02009662

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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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