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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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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Beyzaei, Zahra, Ezgu, Fatih, Geramizadeh, Bita, Imanieh, Mohammad Hadi, Haghighat, Mahmood, Dehghani, Seyed Mohsen, Honar, Naser, Zahmatkeshan, Mojgan, Jassbi, Amirreza, Mahboubifar, Marjan, Alborzi, Alireza
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8007705/
https://ncbi.nlm.nih.gov/pubmed/33782433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-86338-4
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