Results 71 to 80 of about 400 (136)

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

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

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

Drosophila melanogaster Models of Galactosemia. [PDF]

Curr Top Dev Biol, 2017
Daenzer JM, Fridovich-Keil JL.
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

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

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

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

A GC-MS-based untargeted metabolomics approach for comprehensive metabolic profiling of mycophenolate mofetil-induced toxicity in mice. [PDF]

Front Mol Biosci
Zhao T, Zhao Y, Chen H, Sun W, Guan Y.
europepmc   +1 more source

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening. [PDF]

Genes (Basel)
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W, Oliveira ASB, Breinis P, Morita MDPA, França MC.   +10 more
europepmc   +1 more source