Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis-Reference-Cited by-同舟云学术

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Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Published:2020-07-16 Issue: Volume:8 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Degrassi Irene,Amoruso Chiara,Giordano Giuseppe,Del Puppo Marina,Mignarri Andrea,Dotti Maria Teresa,Naturale Mauro,Nebbia Gabriella

Funder

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology and Child Health

Reference31 articles.

1. Une deuxieme observation de cholesterinose tendineuse symetrique avec symptomes cerebraux;Van Bogaert;Ann Med.,1937

2. Disorders of bile acid synthesis;Clayton;J Inherit Metab Dis.,2011

3. Inborn errors of bile acid metabolism;Heubi;Clin Liver Dis.,2018

4. The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies;Verrips;Neurol Sci.,2019

5. Pidemiology diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX);Salen;J Inherit Metab Dis.,2017

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study;Journal of Inherited Metabolic Disease;2024-06-19

2. Cholestatic jaundice in an infant: A twist in the diagnosis;Journal of Paediatrics and Child Health;2024-06-06

3. Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings;International Journal of Neuroscience;2023-12-28

4. Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review;The Egyptian Journal of Neurology, Psychiatry and Neurosurgery;2023-04-18

5. CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report;World Journal of Clinical Cases;2022-06-26

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