Article
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers.
Prenatal diagnosis - 1 Jan 2000
Shalata A, Mandel H, Dorche C, Zabot M T, Shalev S, Hugeirat Y, Arieh D, Ronit Z, Reiss J, Anbinder Y, Cohen N
Abstract excerpt
Molybdenum cofactor deficiency (MoCoD) is an autosomal recessive, fatal neurological disorder, characterized by the combined deficiency of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. We have recently reported an excessive occurrence of this fatal disorder among segments of the Arab population in Northern Israel suggesting that the true incidence of MoCoD is probably underestimated in this...
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