Open AccessChoice of diagnostic method for liver‐type glycogen storage disease
Author(s) -
Kakiuchi Toshihiko,
Zhang Yumeng
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6480
Subject(s) - glycogen storage disease , medicine , liver biopsy , typing , genetic testing , disease , glycogen storage disease type i , diagnostic test , liver disease , glycogen , pathology , biopsy , pediatrics , genetics , biology
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.