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Article

A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis.

Human mutation - 1 Jan 2000

Aalfs C M, Salieb-Beugelaar G B, Wanders R J, Mannens M M, Wijburg F A

Abstract excerpt

Clinical, biochemical and molecular findings in a patient with methemoglobinemia type II are described. Furthermore, a comparison between methemoglobinemia type I and type II, both caused by a deficiency of NADH-cytochrome b5 reductase (b5R), is made. Although the clinical pictures of type I and II are strikingly different, mutations in the diaphorase (DIA1) gene located on chromosome 22 have been described in...

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Identifiers

PMID: 10874300
DOI: 10.1002/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N

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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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