Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

BACKGROUND: Glycogen storage disease (GSD) is a rare inborn error of the synthesis or degradation of glycogen metabolism. GSD1, the most common type of GSD, is categorized into GSD1a and GSD1b which caused by the deficiency of glucose-6-phosphatase (G6PC) and glucose-6-phosphate transporter (SLC37A4...

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Detalles Bibliográficos
Autores principales: Eghbali, Maryam, Abiri, Maryam, Talebi, Saeed, Noroozi, Zahra, Shakiba, Marjan, Rostami, Parastoo, Alimadadi, Hosein, Najafi, Mehri, Yazarlou, Fatemeh, Rabbani, Ali, Modarressi, Mohammad Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995048/
https://www.ncbi.nlm.nih.gov/pubmed/32005221
http://dx.doi.org/10.1186/s13023-019-1266-3

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