Prenatal diagnosis of non-ketotic hyperglycinaemia: Enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations

Prenatal Diagnosis

Volumn 19, Issue 8, 1999, Pages 717-720

  Kure, Shigeo ^a   Rolland, Marie Odile ^b   Leisti, Jaako ^c   Mandel, Hanna ^d   Sakata, Yoshiyuki ^a   Tada, Keiya ^e   Matsubara, Yoichi ^a   Narisawa, Kuniaki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b HÔPITAL DEBROUSSE   (France)

^c UNIVERSITY OF OULU   (Finland)

^d RAMBAM MEDICAL CENTER   (Israel)

^e NTT East Tohoku Hospital   (Japan)

Author keywords

Chorionic villi; Genetic testing; P protein gene; T protein gene; The glycine cleavage system

Indexed keywords

GLYCINE CLEAVAGE SYSTEM;

ARTICLE; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GENE MUTATION; HUMAN; HYPERGLYCINEMIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RACE DIFFERENCE;

AMINO ACID OXIDOREDUCTASES; ARABS; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHORIONIC VILLI SAMPLING; DNA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FINLAND; GLYCINE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; ISRAEL; MULTIENZYME COMPLEXES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; PREGNANCY; PREGNANCY OUTCOME; TRANSFERASES;

EID: 0032839145     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199908)19:8<717::AID-PD625>3.0.CO;2-L     Document Type: Article

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