Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Article ID	Journal	Published Year	Pages	File Type
10143030	Molecular Genetics and Metabolism Reports	2018	7 Pages	PDF

Abstract

This is the second clinical report of a NP-GSD IV patient with a definite molecular elucidation. Based on the clinical and genotypic overlapping between NP-GSD IV and APBD, we suggest both are in a continuum.

Keywords

RT-PCR GSD Adult polyglucosan body disease APBD GBE Glycogen storage disease type IV Functional analysis Epilepsy wild type Reverse transcriptase-polymerase chain reaction

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry, Genetics and Molecular Biology (General)

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Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Authors

Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi,