Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review-Reference-Cited by-同舟云学术

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Published:2018-12 Issue: Volume:17 Page:31-37
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Iijima Hiroyuki,Iwano Reiko,Tanaka Yukichi,Muroya Koji,Fukuda Tokiko,Sugie Hideo,Kurosawa Kenji,Adachi Masanori^ORCID

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference37 articles.

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2. Glycogen Storage Disease Type IV;Magoulas,1993

3. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies;Moses;Curr. Mol. Med.,2002

4. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene;Bao;J. Clin. Invest.,1996

5. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV);Bruno;Neurology,2004

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