Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis-Reference-Cited by-同舟云学术

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis

Published:2021-03-01 Issue:2 Volume:25 Page:132-139
ISSN:1028-852X
Container-title:Iranian Biomedical Journal
language:en
Short-container-title:ibj

Author:

Rashvand Zahra,Kahrizi Kimia,Najmabadi Hossein,Najafipour Reza,Omrani Mir Davood, , , , ,

Publisher

CMV Verlag

Subject

Biochemistry, medical,Clinical Biochemistry,General Biochemistry, Genetics and Molecular Biology

Link

http://ibj.pasteur.ac.ir/article-1-3192-en.pdf

Reference32 articles.

1. Björkhem I, Boberg KM, Leitersdorf E. Inborn Errors in Bile Acid Biosynthesis and Storage of Sterols Other than Cholesterol. Metabolic and molecular bases of inherited disease 2001; Reterieved at: https://ommbid. mhmedical.com/content.aspx?bookId=2709§ionId=225540623.

2. Cholestanolosis (Cerebrotendinous Xanthomatosis)

3. Cholestanol Deposition in Cerebrotendinous Xanthomatosis

4. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis

5. Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

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