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pro vyhledávání: '"John Fiorito"'
Autor:
Randall Marshall, John Y.L. Chiang, Charlotte Brennand, Andrea E. DeBarber, John Fiorito, Sharon F. Freedman, Monte A. Del Monte, P. Barton Duell
Publikováno v:
JAMA ophthalmology. 137(11)
Importance Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid synthesis disorder caused by mutations inCYP27A1, the gene encoding sterol 27-hydroxylase, which results in elevated levels of plasma cholestanol and urinary bile
Autor:
Allison R. Loh, Randall Marshall, Charlotte Brennand, Monte A. Del Monte, Sharon F. Freedman, P. Barton Duell, John Fiorito
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 22:e48