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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
