Associated Papers
Unmasking Congenital Methemoglobinemia: A Novel CYB5R Mutation Discovered in an Adult with Symptomatic Polycythemia
Nayak AR et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024
Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report.
Nakata M et al.
Medicina (kaunas, Lithuania), 2023
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V et al.
Human Mutation, 2020
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
Warang PP et al.
Clinical Genetics, 2015
Primaquine-induced severe methemoglobinemia developed during treatment of Plasmodium vivax malarial infection in an Indian family associated with a novel mutation (p.Agr57Trp) in the CYB5R3 gene.
Kedar P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.
Percy MJ et al.
Journal of Pediatric Hematology/oncology, 2012
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
Percy MJ et al.
British Journal of Haematology, 2008
Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.
Percy MJ et al.
Blood Cells, Molecules & Diseases, 0
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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