Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Claude Speeg-Spatz"'
Autor:
Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most commo
Externí odkaz:
https://doaj.org/article/d3cb3bd6df1b496293971bd9fcb2ed7b
Autor:
Fernández-Eulate, Gorka1,2 (AUTHOR), Martin, Gilles C.3 (AUTHOR), Dureau, Pascal3 (AUTHOR), Speeg-Spatz, Claude4 (AUTHOR), Brassier, Anais5 (AUTHOR), Gillard, Perrine3 (AUTHOR), Bremond-Gignac, Dominique6 (AUTHOR), Thouvenin, Dominique7 (AUTHOR), Pagan, Cecile8 (AUTHOR), Lamari, Foudil9 (AUTHOR), Nadjar, Yann1 (AUTHOR) yann.nadjar@aphp.fr
Publikováno v:
Orphanet Journal of Rare Diseases. 12/13/2022, Vol. 17 Issue 1, p1-6. 6p.