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

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

2013 ◽  
Vol 23 (2) ◽  
pp. 165-169 ◽  
Author(s):  
Gianina Ravenscroft ◽  
Elizabeth M. Thompson ◽  
Emily J. Todd ◽  
Kyle S. Yau ◽  
Nina Kresoje ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Disease Mutations ◽  
Whole Exome

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 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
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