Results 71 to 80 of about 368 (102)

Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study. [PDF]

Int J Mol Sci
Scafuri B, Piscosquito S, Giliberti G, Facchiano A, Miner J, Balakrishnan B, Lai K, Marabotti A.   +7 more
europepmc   +1 more source

Expanding the information about Galactosemias: simulation of the effects of mutations affecting galactose mutarotase

, 2019
Facchiano A, Marabotti A, Brando F, Scafuri B, d’Acierno A   +4 more
core  

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. [PDF]

J Inherit Metab Dis
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT.   +4 more
europepmc   +1 more source

Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia. [PDF]

J Inherit Metab Dis
Daenzer JMI, Druss JJ, Fridovich-Keil JL.   +2 more
europepmc   +1 more source

Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia. [PDF]

J Inherit Metab Dis
Smith NH, Garrett OS, Hendrickson E, Druss JJ, Fridovich-Keil JL.   +4 more
europepmc   +1 more source

A case report of classic galactosemia with a GALT gene variant and a literature review. [PDF]

BMC Pediatr
Wang YC, Lan LC, Yang X, Xiao J, Liu HX, Shan QW.   +5 more
europepmc   +1 more source

Social cognition, psychosocial development and well-being in galactosemia. [PDF]

Orphanet J Rare Dis
Bry C, Propice K, Bourgin J, Métral M.
europepmc   +1 more source

Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic. [PDF]

Nutrients
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, Couce ML.   +3 more
europepmc   +1 more source

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 Galactosemia. [PDF]

J Inherit Metab Dis
Bellagamba O, Guo AJ, Senthilkumar S, Lillevik SH, De Biase D, Lai K, Balakrishnan B.   +6 more
europepmc   +1 more source

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia. [PDF]

J Clin Pharmacol
Bailey E, Phan H, Ahmad A, Thomas J, Ames EG, Pritchard AB, Quinonez SC, Wang S, Dayley C, Salt A, Pick C, Durrant A, Johnson S, Nicodemus-Johnson J, Dickson SP, Perfetti R, Hendrix SB, Shendelman S.   +17 more
europepmc   +1 more source