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Article

Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.

Journal of pediatric hematology/oncology - 1 Aug 2012

Percy Melanie J, Barnes Chris, Crighton Gemma, Leventer Richard J, Wynn Robert, Lappin Terence R

Abstract excerpt

BACKGROUND: Cytochrome b5 reductase (CB5R) deficiency is a recessively inherited autosomal disorder that is either benign (type I) or associated with severe neurological problems (type II). Specific mutations in the CYB5R gene are not exclusive to each type. OBSERVATION: Two cyanotic children with developmental delay but with slow progression were investigated for CB5R deficiency. A novel mutation, p.Arg58Pro,...

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PMID: 22627575
DOI: 10.1097/MPH.0b013e318257a492

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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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