Clinical and genetic spectrum of GSD type 6 in Korea

Clinical and genetic spectrum of GSD type 6 in Korea

Abstract Background Glycogen storage disease type VI (GSD VI) is a rare disease in which liver glycogen metabolism is impaired by mutations in the glycogen phosphorylase L (PYGL). This study aimed to examine the clinical features, genetic analyses, and long-term outcomes of patients with GSD VI in K...

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Bibliographic Details
Main Authors: Jong Woo Hahn, Heerah Lee, Moon Woo Seong, Gyeong Hoon Kang, Jin Soo Moon, Jae Sung Ko
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Glycogen storage disease
Molecular diagnosis
PYGL
Next-generation sequencing
Online Access:https://doi.org/10.1186/s13023-023-02750-1

Internet

https://doi.org/10.1186/s13023-023-02750-1

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