Clinical and genetic spectrum of GSD type 6 in Korea.

Jong Woo HahnHeerah LeeMoon Woo SeongGyeong Hoon KangJin Soo MoonJeong Kee Seo

Published in: Orphanet journal of rare diseases (2023)

The GSD gene panel is a useful diagnostic tool for confirming the presence of GSD VI. Genetic heterogeneity was observed in all patients with GSD VI. Increased liver enzyme levels, hypertriglyceridaemia, and height z score in patients with GSD VI improved during long-term follow-up.

Keyphrases

genome wide
copy number
body mass index
physical activity
transcription factor