Results 111 to 120 of about 1,106 (149)

Salubrinal enhances eIF2α phosphorylation and improves fertility in a mouse model of Classic Galactosemia. [PDF]

Biochim Biophys Acta Mol Basis Dis, 2019
Balakrishnan B, Siddiqi A, Mella J, Lupo A, Li E, Hollien J, Johnson J, Lai K.   +7 more
europepmc   +1 more source

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia. [PDF]

J Inherit Metab Dis, 2018
Frederick AB, Zinsli AM, Carlock G, Conneely K, Fridovich-Keil JL.   +4 more
europepmc   +1 more source

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects. [PDF]

J Inherit Metab Dis, 2018
Haskovic M, Poot WJ, van Golde RJT, Benneheij SH, Oussoren E, de Wert GMWR, Krumeich A, Rubio-Gozalbo ME.   +7 more
europepmc   +1 more source

Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study. [PDF]

J Inherit Metab Dis, 2019
Taylor Fischer S, Frederick AB, Tran V, Li S, Jones DP, Fridovich-Keil JL.   +5 more
europepmc   +1 more source

P048: Three year safety experience in children treated with govorestat for classic galactosemia

Genetics in Medicine Open
Evan Bailey, Riccardo Perfetti, Shoshana Shendelman   +2 more
doaj   +1 more source

Classic Galactosemia: Indian Scenario.

Indian pediatrics, 2016
Sheila, Bhave, Ashish, Bavdekar
openaire   +1 more source

P047: Exit interviews with caregivers of pediatric patients with classic galactosemia demonstrate the meaningfulness of changes in the ACTION-Galactosemia Kids Trial

Genetics in Medicine Open
Evan Bailey, Jason Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge   +7 more
doaj   +1 more source

Impaired fertility and motor function in a zebrafish model for classic galactosemia. [PDF]

J Inherit Metab Dis, 2018
Vanoevelen JM, van Erven B, Bierau J, Huang X, Berry GT, Vos R, Coelho AI, Rubio-Gozalbo ME.   +7 more
europepmc   +1 more source

P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia

Genetics in Medicine Open
Mari Mori, April Lehman, Mackenzie Marr, Rebecca Youngs, Kandamurugu Manickam   +4 more
doaj   +1 more source

Classical galactosemia revisited

, 2004
openaire   +2 more sources