Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis-Reference-Cited by-同舟云学术

Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis

Published:2022-09-20 Issue:1 Volume:293 Page:121-123
ISSN:0954-6820
Container-title:Journal of Internal Medicine
language:en
Short-container-title:J Intern Med

Author:

Bonnet Jean‐Baptiste¹²^ORCID,Couvert Philippe³⁴⁵,Di‐filippo Mathilde⁶⁷,Boissiere Florian⁸,Cristol Jean‐Paul⁹¹⁰,Sutra Thibault¹⁰,Cheillan David⁷¹¹,Moulin Philippe⁷¹²,Sultan Ariane²⁹

Affiliation:

1. UMR 1302 Desbrest Institute of Epidemiology and Public Health University of Montpellier INSERM, CHU Montpellier France

2. Endocrinology‐Diabetes‐Nutrition Department CHU Montpellier University of Montpellier Montpellier France

3. APHP Sorbonne University Pitié‐Salpêtrière Hospital Endocrine and Oncologic Biochemistry Paris France

4. National Institute for Health and Medical Research (INSERM) UMR_S 1166 Faculty of Medicine Pitie‐Salpêtriere, Paris, France

5. Sorbonne University Paris France

6. Dyslipidemia Nutritional and Digestive Dysfunctions Unit Department of Biochemistry and Molecular Biology Biology and Pathology Center ‐ East, Hospices Civils de Lyon Bron France

7. CarMeN Laboratory UMR INSERM U1060/INRA U1397 Claude Bernard Lyon 1 University Bron France

8. Department of Plastic Reconstructive and Aesthetic Surgery Burns and Wound Healing Unit CHRU Lapeyronie Montpellier France

9. PhyMedExp University of Montpellier INSERM U1046 CNRS UMR 9214 M ontpellier France

10. Department of Biochemistry Hôpital Lapeyronie CHU Montpellier Montpellier France

11. Inborn Errors of Metabolism Unit Department of Biochemistry and Molecular Biology Biology and Pathology Center ‐ East Hospices Civils de Lyon Bron France

12. Department of Endocrinology Nutrition and Metabolic Diseases Hospices Civils de Lyon Louis Pradel Cardiovascular Hospital Bron France

Publisher

Wiley

Subject

Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/joim.13568

Reference10 articles.

1. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

2. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

3. Nationwide survey on cerebrotendinous xanthomatosis in Japan

4. Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

5. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

Cited by 2 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. Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols;Journal of Clinical Lipidology;2024-05

2. Leveraging Clinical, Functional, Molecular and Population Genetic Data Reveals Genotype Phenotype Association and Health Disparity in a Monogenic Disorder, CTX;2024-04-16