Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV-Reference-Cited by-同舟云学术

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Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV

Published:2024-06 Issue: Volume:39 Page:101069
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Naito Chie,Kosar Karis,Kishimoto Eriko,Pena Loren,Huang Yilun,Hao Kaili,Bernieh Anas,Kasten Jennifer,Villa Chet,Kishnani Priya,Deeksha Bali,Gu Mingxia,Asai Akihiro

Publisher

Elsevier BV

Reference39 articles.

1. Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment;Hicks;Ultrastruct. Pathol.,2011

2. Glycogen storage disease;Stone,2022

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

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

5. Glycogen storage disease type iv;Magoulas,2013

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Induced Pluripotent Stem Cells and CRISPR-Cas9 Innovations for Treating Alpha-1 Antitrypsin Deficiency and Glycogen Storage Diseases;Cells;2024-06-18

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