A useful multi-analyte blood test for cerebrotendinous xanthomatosis-Reference-Cited by-同舟云学术

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A useful multi-analyte blood test for cerebrotendinous xanthomatosis

Published:2014-06 Issue:9 Volume:47 Page:860-863
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

DeBarber Andrea E.,Luo Jenny,Giugliani Roberto,Souza Carolina F.M.,Chiang John (Pei-Wen),Merkens Louise S.,Pappu Anuradha S.,Steiner Robert D.

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NIH Office of Rare Diseases Research (ORDR)

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference15 articles.

1. Four novel CYP27A1 mutations in seven Italian patients with CTX;Gallus;Eur J Neurol,2010

2. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid;Berginer;N Engl J Med,1984

3. Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study;Mondelli;J Neurol Sci,2001

4. Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics;Leitersdorf;Am J Hum Genet,1994

5. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism;Salen;Ann Intern Med,1971

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1. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals;Molecular Genetics and Metabolism;2024-06

2. 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

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

4. Overlap between ophthalmology and psychiatry – A narrative review focused on congenital and inherited conditions;Psychiatry Research;2024-01

5. A new CYP27A1 mutation in a case of cerebrotendinous xanthomatosis;Neurología (English Edition);2023-06

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