The phenotypic variability in 6- Pyruvoil- thetrahydrobiopterin synthase Deficiency (PTPSD). Clinical presentation and outcome of the italian patients

Autor:	Leuzzi, Vincenzo, Burlina, A, Cerone, R, Concolino, D, Donati, Ma, PONZONE AL, FIORI L., Porta, F, Strisciuglio, P, Carducci, Carla, Carducci, Claudia, Vagnoni, C, Artiola, Cristiana, Pozzessere, Simone, Antonozzi, Italo
Jazyk:	angličtina
Rok vydání:	2008
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=od______3686::c5bcf79b61cf3e941f97be92df5d1275 http://hdl.handle.net/11573/367530 Zobrazit plný text záznamu