The DOI matches its Crossref record; 136 of the 136 references it cites were found in a registry or an index.
Glycogen storage diseases: New perspectives
Open accessAbstract
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. Different hormones, including insulin, glucagon, and cortisol regulate the relationship of glycolysis, gluconeogenesis and glycogen synthesis. The overall GSD incidence is estimated 1 case per 20000-43000 live births. There are over 12 types and they are classified based on the enzyme deficiency and the affected tissue. Disorders of glycogen degradation may affect primarily the liver, the muscle, or both. Type Ia involves the liver, kidney and intestine (and Ib also leukocytes), and the clinical manifestations are hepatomegaly, failure to thrive, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia. Type IIIa involves both the liver and muscle, and IIIb solely the liver. The liver symptoms generally improve with age. Type IV usually presents in the first year of life, with hepatomegaly and growth retardation. The disease in general is progressive to cirrhosis. Type VI and IX are a heterogeneous group of diseases caused by a deficiency of the liver phosphorylase and phosphorylase kinase system. There is no hyperuricemia or hyperlactatemia. Type XI is characterized by hepatic glycogenosis and renal Fanconi syndrome. Type II is a prototype of inborn lysosomal storage diseases and involves many organs but primarily the muscle. Types V and VII involve only the muscle.
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Cites
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New loci associated with kidney function and chronic kidney disease
Köttgen, A., Pattaro, C., Böger, C. A., Fuchsberger, C., Olden, M., Glazer, N. L., Parsa, A., Gao, X., Yang, Q., Smith, A. V., et al. (2010) · Nature Genetics · doi:10.1038/ng.568 · Cited by 804
Lipid nanoparticle technology for therapeutic gene regulation in the liver
Witzigmann, D., Kulkarni, J. A., Leung, J., Chen, S., Cullis, P. R., & van der Meel, R. (2020) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2020.06.026 · Cited by 376
Glycogen Storage Diseases: An Update
Gümüş, E., & Özen, H. (2023) · World Journal of Gastroenterology · doi:10.3748/wjg.v29.i25.3932 · Cited by 100
Self-citationDe Masi, R., & Orlando, S. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23137373 · Cited by 20
“At present, other enzymatic defects of the glycans metabolism are known, resulting in eight glycogen storage diseases (GSD) also called glycogenosis and dextrinosis [21].”
Background
Metadata
- Authors
- Özen, H.
- Venue
- World Journal of Gastroenterology
- Publisher
- Baishideng Publishing Group Inc.
- Published
- 2007
- Volume
- 13
- Issue
- 17
- Pages
- 2541
- ISSN
- 1007-9327 (ISSN-L)
- OpenAlex
- W2102768596
- Cited by
- 287
- References
- 136
- FWCI
- 4.34
- Type
- journal article
- Language
- en
- Open access
- green
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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