Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey-Reference-Cited by-同舟云学术

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Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey

Published:2015-01 Issue: Volume:439 Page:162-167
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Okubo Minoru,Ucar Sema Kalkan,Podskarbi Teodor,Murase Toshio,Shin Yoon S.,Coker Mahmut

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference20 articles.

1. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity;Shin;Semin Pediatr Neurol,2006

2. Glycogen storage diseases;Kishnani,2009

3. Glycogen storage disease type III diagnosis and management guidelines;Kishnani;Genet Med,2010

4. Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations;Aoyama;J Hum Genet,2009

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

Cited by 2 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. A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III;Molecular Genetics and Metabolism Reports;2021-12

2. Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3;Journal of Clinical Neuromuscular Disease;2018-06

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