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Glycogen storage disease in two sisters: A case report
Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides defi...
Autores principales: | Twanabasu, Sajal, Duwadee, Prabin, Homagain, Sushan, Ghimire, Jeevan, Rijal, Ram Chandra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160815/ https://www.ncbi.nlm.nih.gov/pubmed/37151946 http://dx.doi.org/10.1002/ccr3.7318 |
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