Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling.

Charlwood, J; Clayton, P; Keir, G; Mian, N; Young, E; Winchester, B

Charlwood, J; Clayton, P; Keir, G; Mian, N; Young, E; Winchester, B.

Affiliation

Charlwood J; Biochemistry Unit, Institute of Child Health, London, U.K.

Prenat Diagn ; 18(7): 693-9, 1998 Jul.

Article in En | MEDLINE | ID: mdl-9706650

Subject(s)

Amniocentesis; Chorionic Villi Sampling; Congenital Disorders of Glycosylation/diagnosis; Genetic Linkage; Phosphotransferases (Phosphomutases)/deficiency; Amniotic Fluid/cytology; Amniotic Fluid/enzymology; Cells, Cultured; Female; Fibroblasts/enzymology; Humans; Lysosomes/enzymology; Male; Microsatellite Repeats; Pedigree; Phosphotransferases (Phosphomutases)/analysis; Pregnancy

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Collection: 01-internacional Database: MEDLINE Main subject: Chorionic Villi Sampling / Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation / Amniocentesis / Genetic Linkage Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Prenat Diagn Year: 1998 Document type: Article Affiliation country: United kingdom

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