Acylcarnitines in amniotic fluid: Application to the prenatal diagnosis of propionic acidaemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00710283
Reference20 articles.
1. Bohmer T, Bremer J (1968) Propionylcarnitine, physiological variations in vivo.Biochim Biophys Acta 152: 559?567.
2. Buchanan PD, Kahler SG, Sweetman L, Nyhan WL (1980) Pitfalls in the prenatal diagnosis of propionic acidaemia.Clin Genet 18: 177?183.
3. Chadefaux B, Augereau C, Rabier D et al (1988) Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.Prenat Diagn 8: 161?164.
4. Chalmers RA, Roe CR, Stacey TE, Hoppel CL (1984) Urinary excretion ofl-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency ofl-carnitine.Pediatr Res 18: 1325?1328.
5. Coude M, Chadefaux B, Rabier D, Kamoun P (1990) Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias.Clin Chim Acta 187: 329?332.
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