Journal article

First prenatal diagnosis of the carnitine transporter defect

J Christodoulou, SH Teo, J Hammond, KG Sim, BYL Hsu, CA Stanley, B Watson, KC Lau, B Wilcken

AMERICAN JOURNAL OF MEDICAL GENETICS | WILEY-LISS | Published : 1996

DOI: 10.1002/(SICI)1096-8628(19961202)66:1<21::AID-AJMG5>3.3.CO;2-H

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Keywords

Inborn Error of Metabolism
Deficiency
Transport
Fibroblasts
Life Sciences & Biomedicine
Prenatal Diagnosis
Muscle
Fatty Acid Oxidation
Genetics & Heredity
Children
Carnitine
Cardiomyopathy
Science & Technology