Article
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.
Pediatric endocrinology reviews : PER - 1 Sept 2009
Keren Zohar, Falik-Zaccai Tzipora C
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease with multi-organ involvement. The clinical manifestations usually start at infancy and develop during the first and second decades of life; infantile-onset diarrhea may be the earliest clinical manifestation of CTX. Additional clinical manifestations are juvenile cataracts, tendon xanthomas, and multiple progressive...
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