Disease summary: Andersen disease (GSD IV) is a rare genetic disorder of glycogen metabolism. It is caused by the deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues. The disease is inherited as an autosomal recessive trait. Clinically, the symptoms and findings become evident in the first months of life. Such features typically include failure to thrive and hepatosplenomegaly. In such cases, the disease course is typically characterized by progressive cirrhosis and liver failure, leading to potentially life-threatening complications. In addition, several neuromuscular variants of GSD IV have been described that may be evident at birth, in late childhood, or in adulthood.
Michala Bezdekova合作论文数318Christian Zietz合作论文数318Mayumi Endo合作论文数318Andrea Cignarella合作论文数318Mark G. Buckley合作论文数318André B. P. Kuilenburg合作论文数318Jeno Sebes合作论文数318Björn Stork合作论文数318Georges Berghe合作论文数318Renata Kucerova合作论文数318Martina Bienová合作论文数318Albert H. Gennip合作论文数318Birgit Haack合作论文数318Randolf Brehler合作论文数318Nilufar Mohebbi合作论文数318Friedhelm Beyersdorf合作论文数318Lee A. Denson合作论文数318Alessia Diana合作论文数318Matthias Siepe合作论文数318Thomas Bourgeron合作论文数318Damian C. Melles∗合作论文数318Deepak Kamat合作论文数318Engin Sezer合作论文数318Gema Ariceta合作论文数318Gordon Dent合作论文数318H. Anne Simmonds合作论文数318Malin Lindstedt合作论文数318Markus Jäger合作论文数318Murat Bas合作论文数318Pavel Fencl合作论文数318Rita L. McGill合作论文数318Ruth Danzeisen合作论文数318Sebastian Wesselborg合作论文数318Siobhan D. Ma合作论文数318Singh Rajender合作论文数318Sishir Mathur合作论文数318Stefan Kins合作论文数318Steven Mumm合作论文数318Susanne Kohl合作论文数318Sven Schinner合作论文数318Svetlana Brychtova合作论文数318Thomas Hawranek合作论文数318Tim McQuinn合作论文数318Tomas Brychta合作论文数318Mohamed G. Atta合作论文数318Peter Klein合作论文数318Wolfgang Schillinger合作论文数318Zdenek Kolar合作论文数318Zhirong Yao合作论文数318
