Uehara T et al.
American Journal of Medical Genetics. Part A, 2024
Li SY et al.
Orphanet Journal of Rare Diseases, 2024
Lenz D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Casey JP et al.
Journal of Inherited Metabolic Disease, 2015
Datt M et al.
Bmc Genomics, 2014
Casey JP et al.
Molecular Genetics and Metabolism, 2012