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1.
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.
J Inherit Metab Dis
; 45(2): 203-214, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34964137
2.
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups.
J Inherit Metab Dis
; 44(1): 272-281, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32882063
3.
A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.
J Inherit Metab Dis
; 43(3): 518-528, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31845342
4.
UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster.
PLoS Genet
; 8(5): e1002721, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22654673
5.
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.
Dis Model Mech
; 9(11): 1375-1382, 2016 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27562100
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