Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 225

1.

Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child.

Musumeci S, Salvati A, Schiliró G, Salvo G, Di Dio R, Caprari P.

Am J Med Genet. 1984 Dec;19(4):643-50.

PMID:
6517093
2.

Generalized deficiency of the NADH-methemoglobin reductase in congenital methemoglobinemia with neurological symptoms.

Jabłońska-Skwiecińska E, Holtorp-Tyszkiewiczowa J, Staniszewska K.

Biomed Biochim Acta. 1984;43(6):S98-100.

PMID:
6487287
3.

Congenital methemoglobin-reductase (cytochrome b5 reductase) deficiency associated with mental retardation in a Spanish girl.

Vives-Corrons JL, Pujades A, Vela E, Corretger JM, Leroux A, Kaplan JC.

Acta Haematol. 1978;59(6):348-53.

PMID:
97893
4.

[Methemoglobinemia; a description of a case of NADH methemoglobulin reductase deficiency].

Gerli GC, Beretta L, Bianchi M, Bernasconi C, Morandi M, Adami R, Ferrari A.

Minerva Med. 1981 Jul 31;72(29):1925-30. Italian.

PMID:
7254639
5.

[Hereditary methemoglobinemia caused by NADH methemoglobin reductase deficiency].

Esposito L, Ferrara M, Tomasi L, De Filippo P.

Pediatria (Napoli). 1976 Sep 30;84(3):411-22. Italian. No abstract available.

PMID:
1004966
6.

Heterogeneity of hereditary methaemoglobinaemia: a study of 4 Cuban families with NADH-Methaemoglobin reductase deficiency including a new variant (Santiago de Cuba variant).

González R, Estrada M, Wade M, de la Torre E, Svarch E, Fernández O, Ortiz R, Guzmán E, Colombo B.

Scand J Haematol. 1978 May;20(5):385-93.

PMID:
663552
7.

[Congenital deficiency of erythrocyte NADH-dependent methemoglobin reductase (diaphorase)].

Barretto OC, Halsman MW, Nonoyama K, Tamigaki M, Maspes V.

Sangre (Barc). 1984;29(1):62-6. Spanish. No abstract available.

PMID:
6719320
8.

[Congenital methemoglobinemia with central nervous system damage caused by generalized deficiency of NADH-dependent methemoglobin reductase in a 2-year-old Polish girl].

Holtorp-Tyszkiewiczowa J, Jabłońska-Skwiecińska E, Szmidt-Sidor B, Wierzbicka D.

Pediatr Pol. 1984 Oct;59(10):865-70. Polish. No abstract available.

PMID:
6533561
9.

[Congenital methaemoglobin due to methaemoglobin reductase deficiency (author's transl)].

Gasalla Chacón R, Gracia R, del Arco A, Lledo G, García de Bustos J, Romero C.

Sangre (Barc). 1976;21(1):57-66. Spanish. No abstract available.

PMID:
1265591
10.

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

Gehler J, Sewell AC, Becker C, Hartmann J, Spranger J.

Helv Paediatr Acta. 1981;36(2):179-89.

PMID:
6788730
11.

Associated red cell enzyme deficiencies and their significance in a case of congenital enzymopenic methemoglobinemia.

Das Gupta A, Vaidya MS, Bapat JP, Pavri RS, Baxi AJ, Advani SH.

Acta Haematol. 1980;64(5):285-8.

PMID:
6779487
13.

Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.

Gehler J, Sewell AC, Becker C, Spranger J, Hartmann J.

J Inherit Metab Dis. 1981;4(4):229-30.

PMID:
6796777
14.

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.

PMID:
12803131
15.

[Family with 3 homozygotes with hereditary enzymopenic methemoglobinemia in the Uzbek population of Andizhan].

Saliev KK, Andreeva AP, Tokarev IuN, Nurmatov KA, Sabirova LI.

Probl Gematol Pereliv Krovi. 1981 Nov;26(11):49-50. Russian. No abstract available.

PMID:
6459578
16.

NADH--methaemoglobin reductase deficiency. A case report.

Madan N, Kansal V, Srivastava S, Sood SK.

Indian J Pathol Microbiol. 1984 Oct;27(4):335-40. No abstract available.

PMID:
6534866
17.

A case of hereditary methemoglobinemia with NADH-methemoglobin reductase (diaphorase) deficiency.

Patel KC, Dudani RA, Dalvi SG, Dastur FD, Acharya VN, Bapat JP, Baxi AJ, Kulkarni KV, Sukumaran PK.

Indian J Med Res. 1974 Nov;62(11):1716-9. No abstract available.

PMID:
4155699
18.

Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation.

Leroux A, Junien C, Kaplan J, Bamberger J.

Nature. 1975 Dec 18;258(5536):619-20. No abstract available.

PMID:
1207738
19.

Congenital methaemoglobinaemia due to NADH methaemoglobin reductase deficiency: successful treatment with oral riboflavin.

Hirano M, Matsuki T, Tanishima K, Takeshita M, Shimizu S, Nagamura Y, Yoneyama Y.

Br J Haematol. 1981 Mar;47(3):353-9.

PMID:
6893937
20.

Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations.

Kedar PS, Warang P, Ghosh K, Colah RB.

Am J Hematol. 2011 Mar;86(3):327-9. doi: 10.1002/ajh.21956. Epub 2011 Feb 15. No abstract available.

Supplemental Content

Support Center