Literature DB >> 33175268

A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa.

Ying Li1, Xueliang Qi2, Wei Zhang3, Liqun Feng1, Yun Yuan4.   

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Year:  2020        PMID： 33175268     DOI： 10.1007/s10072-020-04883-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  3 in total

1.  Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

Authors:  Chaoxia Lu; Zhengqing Qiu; Miao Sun; Wei Wang; Min Wei; Xue Zhang
Journal:  J Hum Genet       Date:  2016-03-17       Impact factor: 3.172

2.  Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Authors:  Christiaan P Sentner; Irene J Hoogeveen; David A Weinstein; René Santer; Elaine Murphy; Patrick J McKiernan; Ulrike Steuerwald; Nicholas J Beauchamp; Joanna Taybert; Pascal Laforêt; François M Petit; Aurélie Hubert; Philippe Labrune; G Peter A Smit; Terry G J Derks
Journal:  J Inherit Metab Dis       Date:  2016-04-22       Impact factor: 4.982

3.  The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

Authors:  Lisa D Hobson-Webb; Stephanie L Austin; Deeksha S Bali; Priya S Kishnani
Journal:  Genet Med       Date:  2010-07       Impact factor: 8.822
  3 in total

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