Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b) | Orphanet Journal of Rare Diseases | Full Text

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b) | Orphanet Journal of Rare Diseases | Full Text

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

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 deficien...

Authors:Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani and Mohammad Hossein Modarressi

Citation:Orphanet Journal of Rare Diseases 2020 15:35

Content type:Research

Published on: 31 January 2020

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