163 related articles for article (PubMed ID: 14986124)
1. Severe neurological impairment in hereditary methaemoglobinaemia type 2.
Toelle SP; Boltshauser E; Mössner E; Zurbriggen K; Eber S
Eur J Pediatr; 2004 Apr; 163(4-5):207-9. PubMed ID: 14986124
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
Deorukhkar A; Kulkarni A; Kedar P
Mol Biol Rep; 2022 Mar; 49(3):2141-2147. PubMed ID: 35064402
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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]
8. 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]
9. Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy.
Devadathan K; Sreedharan M; Sarasam S; Colah RB; Kunju PA
J Child Neurol; 2014 Nov; 29(11):NP139-42. PubMed ID: 24413360
[TBL] [Abstract][Full Text] [Related]
10. 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]
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. Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.
Vieira LM; Kaplan JC; Kahn A; Leroux A
Blood; 1995 Apr; 85(8):2254-62. PubMed ID: 7718898
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. 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]
15. Congenital methaemoglobinaemia: a rare cause of cyanosis in an adult patient.
Londhey V; Khadilkar K; Gad J; Chawla B; Asgaonkar D
J Assoc Physicians India; 2014 Mar; 62(3):269-71. PubMed ID: 25327075
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis.
Elboraee MS; Clarke G; Belletrutti MJ; Escoredo S
BMJ Case Rep; 2015 Oct; 2015():. PubMed ID: 26494721
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Non-cardiac cyanosis: methemoglobinemia in infants].
Pangaud N; Sassolas F; Bozio A
Pediatrie; 1991; 46(3):263-6. PubMed ID: 1649440
[TBL] [Abstract][Full Text] [Related]
20. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency: report of a case.
Cheng NJ; Hsu TS; Dunn P; Hung JS
Taiwan Yi Xue Hui Za Zhi; 1988 Aug; 87(8):823-7. PubMed ID: 3241162
[No Abstract] [Full Text] [Related]
[Next] [New Search]