Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1-Reference-Cited by-同舟云学术

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

Published:2020-12 Issue:4 Volume:131 Page:405-417
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Sidhu Rohini,Kell Pamela,Dietzen Dennis J.,Farhat Nicole Y.,Do An Ngoc Dang,Porter Forbes D.,Berry-Kravis Elizabeth,Reunert Janine,Marquardt Thorsten,Giugliani Roberto,Lourenço Charles M.,Wang Raymond Y.,Movsesyan Nina,Plummer Ellen,Schaffer Jean E.,Ory Daniel S.,Jiang Xuntian

Funder

National Niemann-Pick Disease Foundation

National Institutes of Health

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference68 articles.

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4. Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review;Vanier;Mol. Genet. Metab.,2016

5. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study;Bauer;Hum. Mol. Genet.,2013

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