Results 101 to 110 of about 1,106 (149)

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia. [PDF]

J Inherit Metab Dis, 2022
Daenzer JMI, Rasmussen SA, Patel S, McKenna J, Fridovich-Keil JL.   +4 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

Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia. [PDF]

ACS Chem Biol, 2021
Mackinnon SR, Krojer T, Foster WR, Diaz-Saez L, Tang M, Huber KVM, von Delft F, Lai K, Brennan PE, Arruda Bezerra G, Yue WW.   +10 more
europepmc   +1 more source

Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia. [PDF]

Am J Speech Lang Pathol, 2021
Peter B, Davis J, Cotter S, Belter A, Williams E, Stumpf M, Bruce L, Eng L, Kim Y, Finestack L, Stoel-Gammon C, Williams D, Scherer N, VanDam M, Potter N.   +14 more
europepmc   +1 more source

Health and well-being of maturing adults with classic galactosemia. [PDF]

J Inherit Metab Dis
Garrett OS, Druss JJ, Vos EN, Fu YD, Lucia S, Greenstein PE, Bauer A, Sykut-Cegielska J, Stepien KM, Arbuckle C, Grafakou O, Meyer U, Vanhoutvin N, Pané A, Bosch AM, Rubio-Gozalbo E, Berry GT, Fridovich-Keil JL.   +17 more
europepmc   +1 more source

A case of classic galactosemia manifesting as neonatal early and profound indirect hyperbilirubinemia. [PDF]

Turk Pediatri Ars, 2020
Kavehmanesh Z, Torkaman M, Beiraghdar F.
europepmc   +1 more source

Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia. [PDF]

JIMD Rep
Mangini L, Lawrence R, Lopez ME, Graham TC, Bauer CR, Nguyen H, Su C, Ramphal J, Crawford BE, Hartl TA.   +9 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

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

Motor Milestones: Sensory Motor Trends of Young Children with Classic Galactosemia. [PDF]

J Occup Ther Sch Early Interv
Armstrong-Heimsoth A, Monroe A, Cupp C, Potter N, VanDam M, Peter B.   +5 more
europepmc   +1 more source