Title |
Glycogen Storage Disease Type III diagnosis and management guidelines
|
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Published in |
Genetics in Medicine, July 2010
|
DOI | 10.1097/gim.0b013e3181e655b6 |
Pubmed ID | |
Authors |
Priya S Kishnani, Stephanie L Austin, Pamela Arn, Deeksha S Bali, Anne Boney, Laura E Case, Wendy K Chung, Dev M Desai, Areeg El-Gharbawy, Ronald Haller, G Peter A Smit, Alastair D Smith, Lisa D Hobson-Webb, Stephanie Burns Wechsler, David A Weinstein, Michael S Watson |
Abstract |
Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degradation. Glycogen storage disease type III manifests a wide clinical spectrum. Individuals with glycogen storage disease type III present with hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Those with type IIIa have symptoms related to liver disease and progressive muscle (cardiac and skeletal) involvement that varies in age of onset, rate of disease progression, and severity. Those with type IIIb primarily have symptoms related to liver disease. This guideline for the management of glycogen storage disease type III was developed as an educational resource for health care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
France | 1 | <1% |
Norway | 1 | <1% |
Australia | 1 | <1% |
Brazil | 1 | <1% |
United States | 1 | <1% |
Unknown | 242 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 39 | 16% |
Researcher | 29 | 12% |
Other | 25 | 10% |
Student > Master | 24 | 10% |
Student > Postgraduate | 19 | 8% |
Other | 47 | 19% |
Unknown | 64 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 75 | 30% |
Biochemistry, Genetics and Molecular Biology | 38 | 15% |
Agricultural and Biological Sciences | 22 | 9% |
Nursing and Health Professions | 9 | 4% |
Chemistry | 4 | 2% |
Other | 20 | 8% |
Unknown | 79 | 32% |