Disease: Hereditary methemoglobinemia- recessive
- A case of recessive congenital methemoglobinemia
- A case with quadriparetic cerebral palsy and cyanosis: congenital methemoglobinemia
- A linkage and physical map of chromosome 22, and some applications to gene mapping
- A microplate reader-based method to quantify NADH-cytochrome b5 reductase activity for diagnosis of recessive congenital methaemoglobinemia
- A new case of recessive congenital methemoglobinemia
- A NEW CASE OF RECESSIVE CONGENITAL METHEMOGLOBINEMIA LINKED WITH A DIAPHORASE I DEFICIENCY
- A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia
- A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia
- A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia
- A novel nine base deletion mutation in <em>NADH</em>-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II
- A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II
- A novel point mutation in NADH-cytochrome b5 reductase gene
- A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia
- A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II
- A Thai boy with hereditary enzymopenic methemoglobinemia type II
- An infant with hereditary methemoglobinemia
- Antibody-based spot test for NADH-cytochrome b5 reductase activity for the laboratory diagnosis of congenital methemoglobinemia
- Apropos of 2 cases of congenital cyanosis (recessive congenital methemoglobinemia and hemoglobinosis M)
- Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy
- Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II
- Cerebellar atrophy in a child with hereditary methemoglobinemia type II
- Characterization of a novel nicotinamide adenine dinucleotide-cytochrome b5 reductase mutation associated with canine hereditary methemoglobinemia
- Clinical and biological forms of cytochrome b5 reductase deficiency
- Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India
- Concentration of NADH-cytochrome b5 reductase in erythrocytes of normal and methemoglobinemic individuals measured with a quantitative radioimmunoblotting assay
- Congenital methemoglobinemia due to diaphorase deficiency
- Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families
- CONGENITAL METHEMOGLOBINEMIA OF THE RECESSIVE TYPE DUE TO DIAPHORASE DEFICIT WITH OLIGOPHRENIA
- Congenital methemoglobinemia of the recessive type. Description of 2 cases
- Congenital methemoglobinemia: a rare case of cyanosis in the newborn
- Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the <em>CYB5R</em> Gene in the State of Qatar: A Case Report
- Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene
- Cyanosis due to hereditary methemoglobinemia
- CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn
- Cytochrome b5 oxidoreductase: expression and characterization of the original familial ideopathic methemoglobinemia mutations E255- and G291D
- Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*
- Electrophoretic and functional variants of NADH-methemoglobin reductase in hereditary methemoglobinemia
- Enzymopenic Congenital Methemoglobinemia in Children of the Republic of Sakha (Yakutia)
- Enzymopenic hereditary methemoglobinemia: a clinical/biochemical classification
- Establishment of a cellular model with human NADH-cytochrome b5 reductase deficiency via RNA interference
- Expression of a novel P275L variant of NADH:cytochrome b5 reductase gives functional insight into the conserved motif important for pyridine nucleotide binding
- Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase
- Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II
- Hereditary methemoglobinemia: a family study with attention to the redox state of the myoglobin
- Hereditary methemoglobinemias
- Heterogeneity of the rat NADH-cytochrome-b5-reductase transcripts resulting from multiple alternative first exons
- Human cytochrome b5 reductase: structure, function, and potential applications
- 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
- Membrane-bound CYB5R3 is a common effector of nutritional and oxidative stress response through FOXO3a and Nrf2
- Membrane-bound cytochrome b5 reductase (methemoglobin reductase) in human erythrocytes. Study in normal and methemoglobinemic subjects
- Molecular analysis of the structure of the mutant NADH-cytochrome b5 reductase gene causing methemoglobinemia
- 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
- Molecular basis of two novel mutations found in type I methemoglobinemia
- Molecular Dynamic Simulation Analysis of a Novel Missense Variant in <em>CYB5R3</em> Gene in Patients with Methemoglobinemia
- Molecular mechanism of recessive congenital methemoglobinemia in Chinese pedigrees
- Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia
- NADH cytochrome b5 reductase activity in lymphoid cell lines. Expression of the defect in epstein Barr virus transformed lymphoblastoid cell lines from patients with recessive congenital methemoglobinemia
- Neurological and Neuroimaging Features of <em>CYB5R3</em>-Related Recessive Hereditary Methemoglobinemia Type II
- Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II
- Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy
- Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia
- Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I
- Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia
- Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency
- Recessive congenital methemoglobinemia
- Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
- Recessive congenital methemoglobinemia due to NADH-cytochrome b5 reductase deficiency associated with recurrent early pregnancy loss (REPL) in an Indian family
- Recessive congenital methemoglobinemia in immediate generations
- Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene
- Recessive congenital methemoglobinemia. Clinical and laboratory study of one case
- Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum
- Recessive Hereditary Methemoglobinemia Type II in a Microcephalic Infant
- Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene
- Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type
- Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations
- Severe neurological impairment in hereditary methaemoglobinaemia type 2
- The enzyme defect in recessive congenital methemoglobinemia with encephalopathy. A new defective variant of NADH-diaphorase (Beni-Messous variant)