scholarly journals GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

2020 ◽  
Vol 7 (11) ◽  
pp. 2186-2198
Author(s):  
Erin E. Chown ◽  
Peixiang Wang ◽  
Xiaochu Zhao ◽  
Justin J. Crowder ◽  
Jordan W. Strober ◽  
...  
Keyword(s):  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1993 ◽  
Vol 33 (1) ◽  
pp. 88-93 ◽  
Author(s):  
Claudio Bruno ◽  
Serenella Servidei ◽  
Sara Shanske ◽  
George Karpati ◽  
Stirling Carpenter ◽  
...  
Keyword(s):  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease ◽  
Glycogen Branching Enzyme

Adult Polyglucosan Body Disease (APBD)

1988 ◽  
Vol 47 (4) ◽  
pp. 459-474 ◽  
Author(s):  
Francoise Gray ◽  
Romain Gherardi ◽  
Anne Marshall ◽  
Ivan Janota ◽  
Jacques Poirier
Keyword(s):  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease

Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease

2019 ◽  
Vol 39 (6) ◽  
pp. 557-562
Author(s):  
Ramona De Amicis ◽  
Alessandro Leone ◽  
Stefano Ravasenghi ◽  
Graziana Scigliuolo ◽  
Elena Mauro ◽  
...  
Keyword(s):  
Case Report ◽  
Nutritional Status ◽  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease

scholarly journals Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

2017 ◽  
Vol 3 (2) ◽  
pp. e138 ◽  
Author(s):  
Yasuo Harigaya ◽  
Takashi Matsukawa ◽  
Yukio Fujita ◽  
Kazuyuki Mizushima ◽  
Hiroyuki Ishiura ◽  
...  
Keyword(s):  
Japanese Family ◽  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease

Adult polyglucosan body disease presenting as a unilateral progressive plexopathy

2016 ◽  
Vol 53 (6) ◽  
pp. 976-981 ◽  
Author(s):  
Elie Naddaf ◽  
Charles D. Kassardjian ◽  
Yasemin Gulcan Kurt ◽  
Hasan Orhan Akman ◽  
Anthony J. Windebank
Keyword(s):  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease

Acute but transient neurological deterioration revealing adult polyglucosan body disease

2013 ◽  
Vol 324 (1-2) ◽  
pp. 179-182 ◽  
Author(s):  
Ségolène Billot ◽  
Dominique Hervé ◽  
Hasan O. Akman ◽  
Roseline Froissart ◽  
Christiane Baussan ◽  
...  
Keyword(s):  
Neurological Deterioration ◽  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease
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