Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Molecular Genetics and Metabolism|October 17, 2024
Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8Nicola Longo, Laura Alane Voss, Marta Frigeni, et al.
Biomedicines|December 30, 2025
Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia-A Pilot StudyOlivia Bellagamba, Aaron J Guo, Xinhua Yan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|October 13, 2019
Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic GalactosemiaBijina Balakrishnan, Ding An, Vi Nguyen, et al.
Human Mutation|August 26, 2017
Functional and molecular studies in primary carnitine deficiencyMarta Frigeni, Bijina Balakrishnan, Xue Yin, et al.
Journal of Inherited Metabolic Disease|October 27, 2016
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiencyWyman Chen, Rose Caston, Bijina Balakrishnan, et al.
International Journal of Molecular Sciences|February 13, 2025
Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary StudyBernardina Scafuri, Stefania Piscosquito, Giulia Giliberti, et al.
Journal of Inherited Metabolic Disease|February 2, 2025
Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic GalactosemiaOlivia Bellagamba, Aaron J Guo, Sandhya Senthilkumar, et al.
Biochemical and Biophysical Research Communications|January 17, 2016
Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblastsBijina Balakrishnan, Wyman Chen, Manshu Tang, et al.
Molecular Genetics and Metabolism|September 3, 2018
Effect of genotype on galactose-1-phosphate in classic galactosemia patientsTatiana Yuzyuk, Bijina Balakrishnan, Elizabeth L Schwarz, et al.
Journal of Inherited Metabolic Disease|May 12, 2019
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethalityBijina Balakrishnan, Jan Verheijen, Arielle Lupo, et al.
Pageof 2