Article
Life with too much polyprenol: polyprenol reductase deficiency.
Molecular genetics and metabolism - 1 Apr 2012
Gründahl J E H, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler M G, Siedlecka J, Swiezewska E, Raetz C R H, Marquardt T
Abstract excerpt
Congenital disorders of glycosylation (CDG) are caused by a dysfunction of glycosylation, an essential step in the manufacturing process of glycoproteins. This paper focuses on a 6-year-old patient with a new type of CDG-I caused by a defect of the steroid 5α reductase type 3 gene (SRD5A3). The clinical features were psychomotor retardation, pathological nystagmus, slight muscular hypotonia and microcephaly....
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