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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
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