Recessive congenital methemoglobinemia due to NADH-cytochrome b5 reductase deficiency associated with recurrent early pregnancy loss (REPL) in an Indian family.
Prabhakar
P
Kedar
Prashant
P
Warang
Kanjaksha
K
Ghosh
Roshan
R
Colah
D000026:Abortion, Habitual / Q000209:etiology*; D000328:Adult; D002648:Child; D003241:Consanguinity; D003490:Cyanosis / Q000209:etiology / Q000503:physiopathology; D042966:Cytochrome-B(5) Reductase / Q000097:blood / Q000172:deficiency; D005192:Family Health; D005260:Female; D005317:Fetal Growth Retardation / Q000209:etiology; D006720:Homozygote; D006801:Humans; D007194:India; D007231:Infant, Newborn; D008297:Male; D008708:Methemoglobinemia / Q000097:blood / Q000503:physiopathology*; D010375:Pedigree; D010927:Placental Insufficiency / Q000209:etiology; D011225:Pre-Eclampsia / Q000209:etiology; D011247:Pregnancy; D012720:Severity of Illness Index
D042966:Cytochrome-B(5) Reductase