Glycogen Storage Disease Type II |
Contact us |
| Return to database |
Prevalence (%) of clinical parameters based on data from 2 references describing 27 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Muscle weakness | skeletal | 78 % | 16917947 | 2014-02-05 | |
| Cardiomyopathy | circulatory | 78 % | 24269976 | 2014-02-05 | |
| Increased blood CK | circulatory | 67 % | 16917947 | 2014-02-05 | |
| Fatigue | skeletal | 56 % | 16917947 | 2014-02-05 | |
| Failure to thrive | multi | 56 % | 24269976 | 2014-02-05 | |
| Increased blood transaminase | circulatory | 44 % | 16917947 | 2014-02-05 |
List of references:
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
A L E Montalvo, B Bembi, M Donnarumma, M Filocamo, G Parenti, M Rossi, L Merlini, E Buratti, P De Filippi, A Dardis, M Stroppiano, G Ciana, M G Pittis,
Human mutation - Oct 2006
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Lijun Fu, Wenjuan Qiu, Yongguo Yu, Ying Guo, Pengjun Zhao, Xu Zhang, Chunxiao Liu, Fen Li, Huimin Huang, Meirong Huang, Shubao Chen,
Gene - Feb 2014