Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10091711 | The Journal of Pediatrics | 2005 | 4 Pages |
Abstract
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.
Keywords
Related Topics
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Medicine and Dentistry
Perinatology, Pediatrics and Child Health
Authors
Callum J. FRACP, Michael FRACP, MRCP, MD, Brian A. MD, FRACP, Thorsten FRCP, Glen FRANZCR, E. Regula MD, Denise M. BSc(Hons), David R. PhD,