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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
GSD1b
Autozygosity mapping
Novel variants
Genotype-phenotype correlation
Online Access:https://doi.org/10.1186/s13023-019-1266-3

Internet

https://doi.org/10.1186/s13023-019-1266-3

Similar Items