Detalhe da pesquisa
1.
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
Mol Genet Metab
; 138(4): 107542, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36848716
2.
Long-term complications in classic galactosemia are not progressive.
Mol Genet Metab
; 140(3): 107708, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37866059
3.
Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.
J Inherit Metab Dis
; 46(6): 1131-1138, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776278
4.
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know.
Mol Genet Metab
; 137(1-2): 33-39, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882174
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964137
6.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
J Inherit Metab Dis
; 45(6): 1106-1117, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36093991
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32882063
8.
Hand fine motor control in classic galactosemia.
J Inherit Metab Dis
; 44(4): 871-878, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33720431
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845342
10.
Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.
J Inherit Metab Dis
; 42(2): 254-263, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30667068
11.
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.
J Inherit Metab Dis
; 41(5): 785-790, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721917
12.
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.
J Inherit Metab Dis
; 40(6): 813-821, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28695375
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-22654673
14.
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
Biochim Biophys Acta
; 1832(8): 1279-93, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23583749
15.
Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature.
Genet Med
; 21(12): 2683-2685, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160755
16.
Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.
Clin Chem
; 60(5): 783-90, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24578239
17.
Intrathecal Vector Delivery in Juvenile Rats via Lumbar Cistern Injection.
J Vis Exp
; (205)2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38619261
18.
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
Biochim Biophys Acta
; 1822(10): 1516-26, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22613355
19.
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.
J Inherit Metab Dis
; 36(6): 1049-61, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23319291
20.
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.
Mol Genet Metab
; 106(4): 442-54, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22743281