Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

1999 ◽  
Vol 22 (6) ◽  
pp. 762-763 ◽  
Author(s):  
G. M. Hadjigeorgiou ◽  
G. P. Comi ◽  
A. Bordoni ◽  
J. Shen ◽  
Y.-T. Chen ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Splice Site ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Donor Splice Site ◽  
Donor Splice ◽  
Type Iiia

NovelAGLmutation in a Turkish patient with glycogen storage disease type IIIa

2010 ◽  
Vol 52 (1) ◽  
pp. 145-147 ◽  
Author(s):  
Yoshiko Aoyama ◽  
Yoriko Endo ◽  
Tetsu Ebara ◽  
Toshio Murase ◽  
Yoon S. Shin ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Turkish Patient ◽  
Type Iiia

scholarly journals A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

2014 ◽  
Vol 34 (5) ◽  
pp. 390-395 ◽  
Author(s):  
Sulman Basit ◽  
Omhani Malibari ◽  
Alia Mahmood Al Balwi ◽  
Firoz Abdusamad ◽  
Feras Abu Ismail
Keyword(s):  
Glycogen Storage Disease ◽  
Splice Site ◽  
Storage Disease ◽  
Splice Site Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Site Mutation ◽  
Type 3

scholarly journals Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA

Data in Brief ◽  
2020 ◽  
Vol 32 ◽  
pp. 106205
Author(s):  
Tatiana Marusic ◽  
Mojca Zerjav Tansek ◽  
Andreja Sirca Campa ◽  
Ajda Mezek ◽  
Pavel Berden ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iiia

scholarly journals A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

2015 ◽  
Vol 187 (2) ◽  
pp. E68-E73 ◽  
Author(s):  
Isabelle Rousseau-Nepton ◽  
Minoru Okubo ◽  
Rosemarie Grabs ◽  
John Mitchell ◽  
Constantin Polychronakos ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Case Series ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iiia ◽  
Whole Exome
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