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Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II

10 Oct 2018

Abstract excerpt

Cytochrome b5 reductase 3 (CYB5R3) is a membrane-bound NADH-dependent redox enzyme anchored to the mitochondrial outer membrane, endoplasmic reticulum, and plasma membrane. Recessive hereditary methaemoglobinaemia (RHM) type II is caused by CYB5R3 deficiency and is an incurable disease characterized by severe encephalopathy with mental retardation, microcephaly, generalized dystonia, and movement disorders....

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PMID: 30309019
DOI: 10.3390/jcm7100341

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