Article
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
Orphanet journal of rare diseases - 31 Jan 2020
Eghbali Maryam, Abiri Maryam, Talebi Saeed, Noroozi Zahra, Shakiba Marjan, Rostami Parastoo, Alimadadi Hosein, Najafi Mehri, Yazarlou Fatemeh, Rabbani Ali, Modarressi Mohammad Hossein
Abstract excerpt
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), respectively. The high rates of consanguineous marriages in Iran provide a desirable context to facilitate...
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