Glycogen Storage Disease IA |
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Prevalence (%) of clinical parameters based on data from 2 references describing 202 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 |
| Hypertriglyceridemia | circulatory | 100 % | 8273986 | 2014-02-05 | |
| Hepatomegaly | digestive | 100 % | 8273986 | 2014-02-05 | |
| Increased blood gammaglutamyltransferase | circulatory | 93 % | 8273986 | 2014-02-05 | |
| Short stature | skeletal | 90 % | 8273986 | 2014-02-05 | |
| Anemia | circulatory | 81 % | 8273986 | 2014-02-05 | |
| Hypercholesterolemia | circulatory | 76 % | 8273986 | 2014-02-05 | |
| Cancer | digestive | 75 % | 8273986 | 2014-02-05 | |
| Kidney Calcifications | urinary | 67 % | 8273986 | 2014-02-05 | |
| Increased alkaline phosphatase | skeletal | 61 % | 8273986 | 2014-02-05 | |
| Increased blood transaminase | circulatory | 58 % | 8273986 | 2014-02-05 | |
| Anemia | circulatory | 42 % | 22678084 | 2014-02-05 | |
| Proteinuria | urinary | 33 % | 8273986 | 2014-02-05 | |
| Hepatocellular adenomas | digestive | 31 % | 22678084 | 2014-02-05 | |
| Cancer | digestive | 31 % | 22678084 | 2014-02-05 | |
| Microalbuminuria | urinary | 17 % | 8273986 | 2014-02-05 |
List of references:
Glycogen storage disease in adults.
G M Talente, R A Coleman, C Alter, L Baker, B I Brown, R A Cannon, Y T Chen, J F Crigler, P Ferreira, J C Haworth, G E Herman, R M Issenman, J P Keating, R Linde, T F Roe, B Senior, J I Wolfsdorf,
Annals of internal medicine - Feb 1994
Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.
David Q Wang, Caroline T Carreras, Laurie M Fiske, Stephanie Austin, Danielle Boree, Priya S Kishnani, David A Weinstein,
Genetics in medicine : official journal of the American College of Medical Genetics - Sep 2012