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GLYCOGEN STORAGE DISEASE, TYPE IIIa

National Institutes of Health

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2 relations
AGL, 1-BP DEL, 4455TAGL, EcoRI FRAGMENT INS

Papers overview

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2020
2020
Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa
Abstract Objectives To investigate the clinical and genetic characteristics of children with glycogen storage disease type IIIa… 
2015
2015
[Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
OBJECTIVE To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD… 
Review
2000
Review
2000
Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III
We report two novel mutations in two Japanese patients with glycogen storage disease type IIIa (GSD IIIa). In addition, we review… 
1999
1999
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
Abstract. Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder caused by deficiency of the glycogen… 
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