Associated Papers
A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.
He KY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II.
Nicita F et al.
Brain Sciences, 2022
35203946 (PubMed )
Supplement: brainsci-12-00182-s001.zip › Table_S1.pdf
Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs.
Jaffey JA et al.
Scientific Reports, 2020
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V et al.
Human Mutation, 2020
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.
Nicolas-Jilwan M
The Neuroradiology Journal, 2019
Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II.
Siendones E et al.
Journal of Clinical Medicine, 2018
A microplate reader-based method to quantify NADH-cytochrome b5 reductase activity for diagnosis of recessive congenital methaemoglobinemia.
Kedar P et al.
Hematology (amsterdam, Netherlands), 2017
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
Warang PP et al.
Clinical Genetics, 2015
Characterization of a novel mutation in the NADH-cytochrome b5 reductase gene responsible for rare hereditary methaemoglobinaemia type I.
Rawa K et al.
Acta Haematologica, 2013
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
Percy MJ et al.
British Journal of Haematology, 2008
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
Ewenczyk C et al.
Brain : a Journal of Neurology, 2008
Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
Fermo E et al.
Blood Cells, Molecules & Diseases, 0
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