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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Udgivet i:Sci Rep
Main Authors: 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
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2021
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Article
Online adgang: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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