Clinical and genetic spectrum of GSD type 6 in Korea

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 Korea. ME...

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Detalles Bibliográficos
Autores principales: Hahn, Jong Woo, Lee, Heerah, Seong, Moon Woo, Kang, Gyeong Hoon, Moon, Jin Soo, Ko, Jae Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233917/
https://www.ncbi.nlm.nih.gov/pubmed/37264426
http://dx.doi.org/10.1186/s13023-023-02750-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233917/
https://www.ncbi.nlm.nih.gov/pubmed/37264426
http://dx.doi.org/10.1186/s13023-023-02750-1

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