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Article

Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.

Journal of pediatric gastroenterology and nutrition - 1 Nov 2017

Gong Jing-Yu, Setchell Kenneth D R, Zhao Jing, Zhang Wujuan, Wolfe Brian, Lu Yi, Lackner Karolin, Knisely A S, Wang Neng-Li, Hao Chen-Zhi, Zhang Mei-Hong, Wang Jian-She

Abstract excerpt

OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children. The rare reports of CTX manifest as neonatal cholestasis assess the cholestasis as transient, with patient survival. Our experience differs. METHODS: Homozygous or...

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PMID: 28937538
DOI: 10.1097/MPG.0000000000001730

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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