Results 1 -
6
of
6
for
Glycogen storage disease type 13
- ... not show signs and symptoms of the condition. Glycogen storage disease type 5 Glycogenosis 5 GSD type V GSD V ...
- ... linked traits to their children with Y chromosomes. Glycogen storage disease type 2B Glycogen storage disease type IIb Lysosomal glycogen storage disease with normal acid ...
- ... glucosidase, alpha; acid glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) LYAG LYAG_HUMAN lysosomal alpha-glucosidase Tests ... gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat. 2006 Oct;27(10):999- ...
- ... the PYGM gene have been found to cause glycogen storage disease type V (GSDV). One mutation that is common in North American and European populations is written as Arg50Ter or R50X. This ... of glycogen. Other mutations that cause GSDV may severely reduce ...
- ... gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXd or X- ...
- ... Wright GB, Kanter RJ, Seidman CE, Seidman JG. Glycogen storage diseases ... and autophagy. Mol Biol Cell. 2002 Sep;13(9):3355-68. doi: 10.1091/mbc.e02- ...