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Choice of diagnostic method for liver‐type glycogen storage disease

Liver biopsy is a highly invasive in nature, and measurement of enzyme activity in blood cells and the Fernandez test are less certain for the diagnosis of glycogen storage disease (GSD). Therefore, genetic testing, which can also identify typing, should be prioritized for the diagnosis of GSD.

Detalles Bibliográficos
Autores principales: Kakiuchi, Toshihiko, Zhang, Yumeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576969/
https://www.ncbi.nlm.nih.gov/pubmed/36267830
http://dx.doi.org/10.1002/ccr3.6480