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Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing
Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational re...
Autores principales: | Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Imanieh, Mohammad Hadi, Haghighat, Mahmood, Dehghani, Seyed Mohsen, Honar, Naser, Zahmatkeshan, Mojgan, Jassbi, Amirreza, Mahboubifar, Marjan, Alborzi, Alireza |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007705/ https://www.ncbi.nlm.nih.gov/pubmed/33782433 http://dx.doi.org/10.1038/s41598-021-86338-4 |
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