Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates

Autor:	E. Regula Baumgartner, Michael Myer, Denise M. Kirby, Thorsten Stanley, Brian A. Darlow, Glen Thomson, David R. Thorburn, Callum J. Wilson
Rok vydání:	2005
Předmět:	medicine.medical_specialty Samoa Holocarboxylase Synthetase Deficiency Drug Resistance Propionyl-CoA carboxylase Biotin chemistry.chemical_compound Fatal Outcome Internal medicine Ependyma medicine Humans Central Nervous System Cysts Ultrasonography Holocarboxylase synthetase deficiency Fetal Growth Retardation business.industry Acetyl-CoA carboxylase Australia Infant Newborn medicine.disease language.human_language Pyruvate carboxylase B vitamins Endocrinology chemistry Pediatrics Perinatology and Child Health language Samoan Holocarboxylase synthetase business New Zealand
Zdroj:	The Journal of pediatrics. 147(1)
ISSN:	0022-3476
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cce875ffcfd101803fbf1a3a8e15014 https://pubmed.ncbi.nlm.nih.gov/16027709 Zobrazit plný text záznamu Full Text from ScienceDirect