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Article

Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22.

Blood cells, molecules & diseases - 15 Aug 2012

Huang Yu-Hsiu, Tai Chang-Long, Lu Yung-Hsiu, Wu Tina Jui-Ting, Chen Hong-Duo, Niu Dau-Ming

Abstract excerpt

Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH-cytochrome b5 reductase (cb5r) deficiency. Two distinct clinical forms, types I and II, caused by cb5r deficiency have been recognized. In type I, the enzyme deficiency is restricted only to erythrocytes with cyan...

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Source

Identifiers

PMID: 22658170
DOI: 10.1016/j.bcmd.2012.05.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22658170-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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