FIRST-TRIMESTER (CHORION BIOPSY) DIAGNOSIS OF CITRULLINAEMIA AND METHYLMALONICACIDURIA

Author:

Kleijer W.J,Thoomes R,Galjaard H,Wendel U,Fowler B

Publisher

Elsevier BV

Subject

General Medicine

Reference4 articles.

1. A microassay for arginosuccinase in cultured cells;Jacoby;Am J Hum Genet,1972

2. Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamine metabolism: a sensitive assay using cultured cells;Willard;Hum Genet,1976

3. First-trimester diagnosis of Hunter syndrome on chorionic villi;Kleijer;Lancet,1984

4. Wj Kleijer, Gms Mancini, Mgj Jahoda, et al., First-trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villi, N Engl J Med ((in press)).

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