A new case of holocarboxylase synthetase deficiency

Autor:	Lawrence Sweetman, M. A. Vilaseca, G. Rodríguez-Valcárcel, Antonia Ribes, L. P. Thuy, Paz Briones
Rok vydání:	1989
Předmět:	Holocarboxylase synthetase deficiency medicine.medical_specialty business.industry Infant Newborn Biotin medicine.disease Human genetics Substrate Specificity Pyruvate carboxylase Ligases Endocrinology Biochemistry Recien nacido Internal medicine Genetics Humans Medicine Carbon-Nitrogen Ligases Female Holocarboxylase synthetase business Cells Cultured Genetics (clinical)
Zdroj:	Journal of Inherited Metabolic Disease. 12:329-330
ISSN:	1573-2665 0141-8955
DOI:	10.1007/bf01799228
Popis:	A new case of holocarboxylase synthetase deficiency is reported in a spanish new-born baby. Diagnosis and enzymatic explorations are reported
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fae309d5f6cea603db7ffb8b825581ab https://doi.org/10.1007/bf01799228 Zobrazit plný text záznamu Full text from SpringerLink Plný text