Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

2009 ◽  
Vol 54 (6) ◽  
pp. 765-768 ◽  
Author(s):  
Cecilia Jimenez-Mallebrera ◽  
Andres Nascimento ◽  
Victoria Cusi ◽  
Joan Ramon Corbera ◽  
Marie-Odile Rolland ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Perinatal Period ◽  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Glycogen Branching Enzyme

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

scholarly journals Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase

2013 ◽  
Vol 127 (1) ◽  
pp. 101-113 ◽  
Author(s):  
Or Kakhlon ◽  
Hava Glickstein ◽  
Naomi Feinstein ◽  
Yan Liu ◽  
Otto Baba ◽  
...  
Keyword(s):  
Glycogen Synthase ◽  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Glycogen Branching Enzyme

Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency

2020 ◽  
Vol 695 ◽  
pp. 108626
Author(s):  
Dominika Malinska ◽  
Giorgia Testoni ◽  
Jordi Duran ◽  
Alicja Brudnicka ◽  
Joan J. Guinovart ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Aged Mice ◽  
Glycogen Branching Enzyme

Muscular weakness and recumbency in a Quarter Horse colt due to glycogen branching enzyme deficiency

2010 ◽  
Vol 15 (4) ◽  
pp. 182-188 ◽  
Author(s):  
B. T. Sponseller ◽  
S. J. Valberg ◽  
T. L. Ward ◽  
A. J. Fales-Williams ◽  
J. R. Mickelson
Keyword(s):  
Enzyme Deficiency ◽  
Muscular Weakness ◽  
Branching Enzyme ◽  
Quarter Horse ◽  
Glycogen Branching Enzyme

Glycogen Branching Enzyme Deficiency

2009 ◽  
pp. 727-728
Author(s):  
David J. Timson ◽  
Richard J. Reece ◽  
James B. Thoden ◽  
Hazel M. Holden ◽  
Andrea L. Utz ◽  
...  
Keyword(s):  
Enzyme Deficiency ◽  
Branching Enzyme ◽  
Glycogen Branching Enzyme

scholarly journals Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

2015 ◽  
Vol 24 (20) ◽  
pp. 5667-5676 ◽  
Author(s):  
D. Sean Froese ◽  
Amit Michaeli ◽  
Thomas J. McCorvie ◽  
Tobias Krojer ◽  
Meitav Sasi ◽  
...  
Keyword(s):  
Enzyme Deficiency ◽  
Structural Basis ◽  
Peptide Design ◽  
Branching Enzyme ◽  
Glycogen Branching Enzyme
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