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Article

Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.

Pediatrics - 1 Jan 2009

Berginer Vladimir M, Gross Bella, Morad Khayat, Kfir Nechama, Morkos Siman, Aaref Salameh, Falik-Zaccai Tzipora C

Abstract excerpt

Cerebrotendinous xanthomatosis is an autosomal recessive disease of bile acid synthesis caused by 27-hydroxylase deficiency. Treatment with chenodeoxycholic acid normalizes cholestanol concentrations and abrogates progression of the disease. We present 4 patients with cerebrotendinous xanthomatosis within 1 family who were treated with chenodeoxycholic acid for 14 years. Two young sisters started treatment at the...

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Identifiers

PMID: 19117873
DOI: 10.1542/peds.2008-0192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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