Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa-Reference-Cited by-同舟云学术

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa

Published:2017-11 Issue:3 Volume:122 Page:108-116
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Decostre Valérie,Laforêt Pascal,De Antonio Marie,Kachetel Kahina,Canal Aurélie,Ollivier Gwenn,Nadaj-Pakleza Aleksandra,Petit François M.,Wahbi Karim,Fayssoil Abdallah,Eymard Bruno,Behin Anthony,Labrune Philippe,Hogrel Jean-Yves^ORCID

Funder

Valerion

Association Française contre les Myopathies

Publisher

Elsevier BV

Subject

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

Reference35 articles.

1. A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients;Parvari;Eur. J. Hum. Genet.,1997

2. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands;Santer;Eur. J. Hum. Genet.,2001

3. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5′ flanking region;Bao;Genomics,1996

4. Identification of the catalytic residues of bifunctional glycogen debranching enzyme;Nakayama;J. Biol. Chem.,2001

5. The glycogen storage diseases and related disorders,2016

Cited by 12 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. The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis;Biomolecules;2024-07-24

2. A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III;Journal of Clinical Investigation;2024-01-16

3. French recommendations for the management of glycogen storage disease type III;European Journal of Medical Research;2023-07-24

4. Metabolic Myopathies in the Era of Next-Generation Sequencing;Genes;2023-04-22

5. Glycogen storage disease type IIIa in pregnant women: A guide to management;JIMD Reports;2022-03-22