First prenatal diagnosis of the carnitine transporter defect

American Journal of Medical Genetics

Volumn 66, Issue 1, 1996, Pages 21-24

  Christodoulou, John ^a,b   Teo, Siak Hong ^b   Hammond, Judith ^b   Sim, Keow Giak ^b   Hsu, Betty Y L ^d   Stanley, Charles A ^d   Watson, Brian ^c   Lau, K C ^b   Wilcken, Bridget ^b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

cardiomyopathy; carnitine; fatty acid oxidation; inborn error of metabolism; prenatal diagnosis; transport

Indexed keywords

ACETYL COENZYME A; CAPTOPRIL; CARNITINE; CARNITINE ACETYLTRANSFERASE; DNA; FUROSEMIDE; SPIRONOLACTONE;

AMNION CELL; ARTICLE; CARDIOMYOPATHY; CHORION VILLUS SAMPLING; ECHOCARDIOGRAPHY; FETUS; HEART FAILURE; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; KARYOTYPE; NEWBORN; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CARNITINE; CARNITINE ACYLTRANSFERASES; CHORIONIC VILLI SAMPLING; FEMALE; FETAL DISEASES; HUMANS; MALE; METABOLISM, INBORN ERRORS; POLYMERASE CHAIN REACTION; PREGNANCY;

EID: 0029956829     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961202)66:1<21::AID-AJMG5>3.0.CO;2-Z     Document Type: Article

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