Du T et al.
Orphanet Journal of Rare Diseases, 2024
Govindarajan S et al.
Indian Journal of Pediatrics, 2023
Sharari S et al.
International Journal of Molecular Sciences, 2020
Pennisi A et al.
Journal of Inherited Metabolic Disease, 2020
Enogieru OJ et al.
Human Mutation, 2019
Khandelwal P et al.
Cen Case Reports, 2018
Berry GT et al.
Molecular Genetics and Metabolism, 2005
Santer R et al.
Human Genetics, 2002