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Recessive congenital methemoglobinemia: a systematic review of reported cases

Abstract Background Recessive congenital methemoglobinemia (RCM) is a rare autosomal recessive disorder characterized by a deficiency of NADH-cytochrome b5 reductase. Under normal conditions, cytochrome b5 reductase and NADH reductase maintain methemoglobin in the physiological range by keeping heme...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Julie Neven, Tessi Beyltjens, Marije Meuwissen, Barbara De Bisschop, Jason Bouziotis, Machiel van den Akker
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2026-02-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
Congenital methemoglobinemia
Cytochrome b5 reductase
CYB5R gene
Methylene blue
Online-Zugang:https://doi.org/10.1186/s13023-026-04215-7
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