High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia-Reference-Cited by-同舟云学术

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High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

Published:2012-11 Issue:6 Volume:70 Page:648-650
ISSN:0003-3898
Container-title:Annales de biologie clinique
language:
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Author:

Cherif Wafa,Ben Rhouma Faten,Messai Habib,Mili Amira,Gribaa Moez,Kefi Rym,Ayadi Abdelkarim,Boughamoura Lamia,Chemli Jelel,Saad Ali,Kaabachi Naziha,Sfar Mohamed Tahar,Ben Dridi Marie-Françoise,Tebib Neji,Abdelhak Sonia

Publisher

John Libbey Eurotext

Subject

General Medicine

Cited by 6 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. Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients;Neuropediatrics;2018-10-11

2. A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients;Journal of Pediatric Endocrinology and Metabolism;2018-08-15

3. A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa;Case Reports in Genetics;2016

4. A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families;Annals of Saudi Medicine;2014-09

5. Specific Aspects of Consanguinity: Some Examples from the Tunisian Population;Human Heredity;2014

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