ACE phenotyping in Gaucher disease

Author:

Danilov Sergei M.,Tikhomirova Victoria E.,Metzger Roman,Naperova Irina A.,Bukina Tatiana M.,Goker-Alpan Ozlem,Tayebi Nahid,Gayfullin Nurshat M.,Schwartz David E.,Samokhodskaya Larisa M.,Kost Olga A.,Sidransky Ellen

Funder

University of Illinois at Chicago

Ministry of Science and Education of Russian Federation

Publisher

Elsevier BV

Subject

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

Reference59 articles.

1. Gaucher Diseases, in: The Metabolic and Molecular Bases of Inherited Disease III;Beutler,2001

2. Liver involvement in Gaucher disease – review and clinical approach;Adar;Blood Cells Mol. Dis.,2018

3. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA);Hruska;Hum. Mutat.,2008

4. Gaucher disease: progress and ongoing challenges;Mistry;Mol. Genet. Metab.,2017

5. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies;Aerts;J. Inherit. Metab. Dis.,2011

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