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GLYCOGEN STORAGE DISEASE, TYPE IIIa

 
National Institutes of Health

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2020
2020
Abstract Objectives To investigate the clinical and genetic characteristics of children with glycogen storage disease type IIIa… Expand
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2019
2019
Summary Background Glycogen storage disease type IIIa (GSDIIIa) is a defect of the debranching enzyme (amylo-1,6-glucosidase) in… Expand
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Review
2016
Review
2016
INTRODUCTION The aim of this study was to assess whether peripheral neuropathy is a feature of glycogen storage disease type IIIa… Expand
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2015
2015
OBJECTIVE To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD… Expand
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2013
2013
Myopathic symptoms in Glycogen Storage Disease Type IIIa (GSD IIIa) are generally ascribed to the muscle wasting that these… Expand
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2007
2007
BACKGROUND Inborn errors of metabolism impose a significant genetic burden on purebred dogs and cats. The glycogen storage… Expand
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2003
2003
A 32-year-old man was referred with exertional chest pain. He had been diagnosed with glycogen storage disease type IIIa (GSDIIIa… Expand
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Review
2000
Review
2000
We report two novel mutations in two Japanese patients with glycogen storage disease type IIIa (GSD IIIa). In addition, we review… Expand
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1999
1999
Abstract. Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder caused by deficiency of the glycogen… Expand
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