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Quoted phrase not found in phrase index: "Methemoglobinemia type 4"
Page 1
Corneal epitheliopathy in congenital methemoglobinemia.
Chaurasia S, Ramappa M, Bhargava A. Chaurasia S, et al. Cornea. 2014 Apr;33(4):422-4. doi: 10.1097/ICO.0000000000000076. Cornea. 2014. PMID: 24503601
PURPOSE: The aim of this study was to describe a previously unreported characteristic corneal epitheliopathy in congenital methemoglobinemia (type 1). METHODS: This was an observational case series of ocular findings in congenital methemoglobinemia. RE …
PURPOSE: The aim of this study was to describe a previously unreported characteristic corneal epitheliopathy in congenital methemoglobine …
Metabolism of 8-aminoquinoline antimalarial agents.
Strother A, Fraser IM, Allahyari R, Tilton BE. Strother A, et al. Bull World Health Organ. 1981;59(3):413-25. Bull World Health Organ. 1981. PMID: 6976849 Free PMC article.
These studies are reviewed.Adult dogs dosed with tritium-labelled primaquine were observed to excrete approximately 16% of the injected radioactivity in the urine within 8 hours. ...Some primaquine was excreted along with at least five metabolites including 5-hydroxy-6-met …
These studies are reviewed.Adult dogs dosed with tritium-labelled primaquine were observed to excrete approximately 16% of the inject …
Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.
Higasa K, Manabe JI, Yubisui T, Sumimoto H, Pung-Amritt P, Tanphaichitr VS, Fukumaki Y. Higasa K, et al. Br J Haematol. 1998 Dec;103(4):922-30. doi: 10.1046/j.1365-2141.1998.01123.x. Br J Haematol. 1998. PMID: 9886302 Free article.
Hereditary methaemoglobinaemia, caused by deficiency of NADH-cytochrome b5 reductase (b5R), has been classified into two types, an erythrocyte (type I) and a generalized (type II). ...The patient with type I was homozygous for a C-to-T substitution in …
Hereditary methaemoglobinaemia, caused by deficiency of NADH-cytochrome b5 reductase (b5R), has been classified into two types, an er …
Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.
Dekker J, Eppink MH, van Zwieten R, de Rijk T, Remacha AF, Law LK, Li AM, Cheung KL, van Berkel WJ, Roos D. Dekker J, et al. Blood. 2001 Feb 15;97(4):1106-14. doi: 10.1182/blood.v97.4.1106. Blood. 2001. PMID: 11159544 Free article.
Cytochrome b(5) reductase (b5R) deficiency manifests itself in 2 distinct ways. In methemoglobinemia type I, the patients only suffer from cyanosis, whereas in type II, the patients suffer in addition from severe mental retardation and neurologic impairment. …
Cytochrome b(5) reductase (b5R) deficiency manifests itself in 2 distinct ways. In methemoglobinemia type I, the patients only …
Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase.
Percy MJ, Oren H, Savage G, Irken G. Percy MJ, et al. Hematol J. 2004;5(4):367-70. doi: 10.1038/sj.thj.6200380. Hematol J. 2004. PMID: 15297856
Sequencing the DIA 1 gene that encodes cytb5r revealed a novel C403T base change, predicting a proline to serine change at codon 144. This amino-acid change is not located in the enzyme's active site and does not cause loss of function. Instead it results in reduced stabil …
Sequencing the DIA 1 gene that encodes cytb5r revealed a novel C403T base change, predicting a proline to serine change at codon 144. …
A novel mutation found in the 3' domain of NADH-cytochrome B5 reductase in an African-American family with type I congenital methemoglobinemia.
Jenkins MM, Prchal JT. Jenkins MM, et al. Blood. 1996 Apr 1;87(7):2993-9. Blood. 1996. PMID: 8639921 Free article.
Congenital methemoglobinemia caused by an erythrocytic deficiency of cytochrome b5 reductase (b5R; type I) in African-American individuals was first reported by this laboratory. The rarity of this observation is possibly due to the difficulty detecting cyanos …
Congenital methemoglobinemia caused by an erythrocytic deficiency of cytochrome b5 reductase (b5R; type I) in African-American …