Rezultati - Bijina Balakrishnan
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Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study od Bernardina Scafuri, Stefania Piscosquito, Giulia Giliberti, Angelo Facchiano, Jaden Miner, Bijina Balakrishnan, Kent Lai, Anna Marabotti
Izdano 2025Artigo -
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Assessment of Long‐Term Safety and Efficacy of Purple Sweet Potato Color (<scp>PSPC</scp>) and <i>Myo‐</i>Inositol (<scp>MI</scp>) Treatment for Motor Related and Behavioral Phenot... od Olivia Bellagamba, Aaron j Guo, Sandhya Senthilkumar, Synneva Hagen Lillevik, Davide De Biase, Kent Lai, Bijina Balakrishnan
Izdano 2025Artigo -
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AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG) od Bijina Balakrishnan, Ruqaiah Altassan, Rohit Budhraja, Willisa Liou, Arielle Lupo, Sarah L. Bryant, Anastasiya Mankouski, Silvia Radenkovic, Graeme Preston, Akhilesh Pandey, Sihem Boudina, Tamás Kozicz, Éva Morava, Kent Lai
Izdano 2023Artigo
Iskalna orodja:
Sorodne teme
Biology
Biochemistry
Gene
Endocrinology
Enzyme
Galactose
Galactosemia
Internal medicine
Medicine
Mutant
Allosteric regulation
Cardiomyopathy
Carnitine
Chemistry
Dilated cardiomyopathy
Drug discovery
Ejection fraction
Enzyme assay
Exon
Genetics
Heart failure
In vitro
Inositol
Missense mutation
Mutation
Pathology
Phenotype
Phosphoglucomutase
Physics
Quantum mechanics