Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
A new variant in PHKA2 is associated with glycogen storage disease type IXa.
Rodríguez-Jiménez C et al.
Molecular Genetics and Metabolism Reports, 2017
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
Qin L et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Nasobiliary drainage in an episode of intrahepatic cholestasis in a child with mild ABCB11 disease.
Zellos A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012
Select a paper to view details