Associated Papers
Hemoglobin Disorders Associated with Neurological Impairment: First Report of ATR-X Syndrome and Recessive Congenital Methemoglobinemia Type II in Tunisia.
Ouragini H et al.
International Journal of Molecular Sciences, 2025
Rare Case of Homozygosity for CYB5R3 Variant c.235C > T p.(Arg79Trp) Causing Type II Methemoglobinemia.
Bendtsen SK et al.
Hemoglobin, 2025
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
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
[Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia].
Galeeva NM et al.
Genetika, 2012
Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.
Percy MJ et al.
Journal of Pediatric Hematology/oncology, 2012
Molecular basis of two novel mutations found in type I methemoglobinemia.
Lorenzo FR et al.
Blood Cells, Molecules & Diseases, 2011
NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.
Percy MJ et al.
Journal of Clinical Pathology, 2008
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
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.
Kugler W et al.
Human Mutation, 2001
Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.
Dekker J et al.
Blood, 2001
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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