Journal of Pediatrics 2005-Jul
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Der Link wird in der Zwischenablage gespeichert
Schlüsselwörter
Abstrakt
We describe 7 Polynesian babies with a unique severe form of holocarboxylase synthetase deficiency characterized by antenatal growth retardation, subependymal cysts, only partial response to biotin, and a poor outcome.