Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anna Maria Isdraele Romano"'
Autor:
Maurizio Delvecchio, Biagio Rapone, Simonetta Simonetti, Simona Fecarotta, Graziana De Carlo, Elvira Favoino, Maria Teresa Loverro, Anna Maria Isdraele Romano, Federica Taurino, Edoardo Di Naro, Antonio Gnoni
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
Abstract Background Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-deh
Externí odkaz:
https://doaj.org/article/865ff49bc16a40598251f6a94f51f6c7
Autor:
Maria Teresa Loverro, Elvira Favoino, Anna Maria Isdraele Romano, Maurizio Delvecchio, Simonetta Simonetti, Biagio Rapone, Edoardo Di Naro, Graziana De Carlo, Simona Fecarotta, Antonio Gnoni, Federica Taurino
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Background Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-dehydrochole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21d637a6a81c37927afeb069b2b598c
http://link.springer.com/article/10.1186/s13052-020-00924-2
http://link.springer.com/article/10.1186/s13052-020-00924-2