284 related articles for article (PubMed ID: 18820099)
1. NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.
Percy MJ; Aslan D
J Clin Pathol; 2008 Oct; 61(10):1122-3. PubMed ID: 18820099
[TBL] [Abstract][Full Text] [Related]
2. A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.
Arikoglu T; Yarali N; Kara A; Bay A; Bozkaya IO; Tunc B; Percy MJ
Pediatr Hematol Oncol; 2009; 26(5):381-5. PubMed ID: 19579085
[TBL] [Abstract][Full Text] [Related]
3. Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
Percy MJ; Lappin TR
Br J Haematol; 2008 May; 141(3):298-308. PubMed ID: 18318771
[TBL] [Abstract][Full Text] [Related]
4. Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.
Percy MJ; Crowley LJ; Davis CA; McMullin MF; Savage G; Hughes J; McMahon C; Quinn RJ; Smith O; Barber MJ; Lappin TR
Br J Haematol; 2005 Jun; 129(6):847-53. PubMed ID: 15953014
[TBL] [Abstract][Full Text] [Related]
5. 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; Crowley LJ; Roper D; Vulliamy TJ; Layton DM; Barber MJ
Blood Cells Mol Dis; 2006; 36(1):81-90. PubMed ID: 16310381
[TBL] [Abstract][Full Text] [Related]
6. 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
Hematol J; 2004; 5(4):367-70. PubMed ID: 15297856
[TBL] [Abstract][Full Text] [Related]
7. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families.
Kedar PS; Colah RB; Ghosh K; Mohanty D
Haematologia (Budap); 2002; 32(4):543-9. PubMed ID: 12803131
[TBL] [Abstract][Full Text] [Related]
8. A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia.
Kedar PS; Warang P; Nadkarni AH; Colah RB; Ghosh K
Blood Cells Mol Dis; 2008; 40(3):323-7. PubMed ID: 17964195
[TBL] [Abstract][Full Text] [Related]
9. Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
Fermo E; Bianchi P; Vercellati C; Marcello AP; Garatti M; Marangoni O; Barcellini W; Zanella A
Blood Cells Mol Dis; 2008; 41(1):50-5. PubMed ID: 18343696
[TBL] [Abstract][Full Text] [Related]
10. Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*.
Davis CA; Crowley LJ; Barber MJ
Arch Biochem Biophys; 2004 Nov; 431(2):233-44. PubMed ID: 15488472
[TBL] [Abstract][Full Text] [Related]
11. A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II.
Yüksel D; Senbil N; Yilmaz D; Yarali N; Gürer YK
Turk J Pediatr; 2009; 51(2):187-9. PubMed ID: 19480335
[TBL] [Abstract][Full Text] [Related]
12. 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; Pekrun A; Laspe P; Erdlenbruch B; Lakomek M
Hum Mutat; 2001 Apr; 17(4):348. PubMed ID: 11295830
[TBL] [Abstract][Full Text] [Related]
13. Expression of a novel P275L variant of NADH:cytochrome b5 reductase gives functional insight into the conserved motif important for pyridine nucleotide binding.
Percy MJ; Crowley LJ; Boudreaux J; Barber MJ
Arch Biochem Biophys; 2006 Mar; 447(1):59-67. PubMed ID: 16469290
[TBL] [Abstract][Full Text] [Related]
14. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
Ewenczyk C; Leroux A; Roubergue A; Laugel V; Afenjar A; Saudubray JM; Beauvais P; Billette de Villemeur T; Vidailhet M; Roze E
Brain; 2008 Mar; 131(Pt 3):760-1. PubMed ID: 18202104
[TBL] [Abstract][Full Text] [Related]
15. Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.
Kedar PS; Gupta V; Warang P; Chiddarwar A; Madkaikar M
Hematology; 2018 Sep; 23(8):567-573. PubMed ID: 29482478
[TBL] [Abstract][Full Text] [Related]
16. Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
Warang PP; Kedar PS; Shanmukaiah C; Ghosh K; Colah RB
Clin Genet; 2015; 87(1):62-7. PubMed ID: 24266649
[TBL] [Abstract][Full Text] [Related]
17. Cytochrome b5 oxidoreductase: expression and characterization of the original familial ideopathic methemoglobinemia mutations E255- and G291D.
Davis CA; Barber MJ
Arch Biochem Biophys; 2004 May; 425(2):123-32. PubMed ID: 15111120
[TBL] [Abstract][Full Text] [Related]
18. [Clinical and biological forms of cytochrome b5 reductase deficiency].
Kaplan JC; Leroux A; Beauvais P
C R Seances Soc Biol Fil; 1979; 173(2):368-79. PubMed ID: 159760
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through.
Leroux A; Leturcq F; Deburgrave N; Szajnert MF
Eur J Haematol; 2005 May; 74(5):389-95. PubMed ID: 15813912
[TBL] [Abstract][Full Text] [Related]
20. [Congenital methaemoglobinaemia--a rare cause of dyspnoea and cyanosis].
Rasmussen KB; Gantzhorn EK
Ugeskr Laeger; 2011 Aug; 173(35):2133-4. PubMed ID: 21884667
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
