Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.

Siti Aishah Abdul Wahab Yusnita Yakob Mohd Khairul Nizam Mohd KhalidNoraishah AliHuey Yin Leong Lock Hock Ngu

Published in: Genetics research (2022)

The establishment of <i>G6PC</i> molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
gene expression
single molecule
dna methylation
copy number
fine needle aspiration
hepatitis c virus
patient reported