Found: 20
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Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1624, doi. 10.1093/hmg/ddp080
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- Publication type:
- Article
DAB-quant: An open-source digital system for quantifying immunohistochemical staining with 3,3′-diaminobenzidine (DAB).
- Published in:
- PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0271593
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- Publication type:
- Article
UDP-Galactose 4′-Epimerase Activities toward UDP-Gal and UDP-GalNAc Play Different Roles in the Development of Drosophila melanogaster.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 5, p. 1, doi. 10.1371/journal.pgen.1002721
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- Publication type:
- Article
Modifiers of ovarian function in girls and women with classic galactosemia.
- Published in:
- 2013
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- Publication type:
- journal article
Grip strength in patients with galactosemia and in a galactose‐1‐phosphate uridylyltransferase (GALT)‐null rat model.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1131, doi. 10.1002/jimd.12684
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- Publication type:
- Article
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 203, doi. 10.1002/jimd.12471
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- Publication type:
- Article
Hand fine motor control in classic galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 871, doi. 10.1002/jimd.12376
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- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 272, doi. 10.1002/jimd.12311
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- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 518, doi. 10.1002/jimd.12205
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- Publication type:
- Article
Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 254, doi. 10.1002/jimd.12007
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- Publication type:
- Article
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 785, doi. 10.1007/s10545-018-0177-0
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- Publication type:
- Article
Liquid Chromatography--Tandem Mass Spectrometry Enzyme Assay for UDP-Galactose 4'-Epimerase: Use of Fragment Intensity Ratio in Differentiation of Structural Isomers.
- Published in:
- Clinical Chemistry, 2014, v. 60, n. 5, p. 783, doi. 10.1373/clinchem.2013.219931
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- Publication type:
- Article
Galactosemia: The good, the bad, and the unknown.
- Published in:
- Journal of Cellular Physiology, 2006, v. 209, n. 3, p. 701, doi. 10.1002/jcp.20820
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- Publication type:
- Article
Acute and early developmental outcomes of children with Duarte galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 101, doi. 10.1002/jmd2.12267
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- Publication type:
- Article
Functional overlap between conserved and diverged KH domains in Saccharomyces cerevisiae SCP160.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 4, p. 1108, doi. 10.1093/nar/gkl1160
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- Publication type:
- Article
Both KH and non-KH domain sequences are required for polyribosome association of Scp160p in yeast.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 16, p. 4768
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- Publication type:
- Article
Genetic and biochemical interactions between SCP160 and EAP1 in yeast.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 20, p. 5838, doi. 10.1093/nar/gkg810
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- Publication type:
- Article
Scp160p associates with specific mRNAs in yeast.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 7, p. 1830
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- Publication type:
- Article
The brefeldin A resistance protein Bfr1p is a component of polyribosome-associated mRNP complexes in yeast.
- Published in:
- Nucleic Acids Research, 2001, v. 29, n. 12, p. 2567, doi. 10.1093/nar/29.12.2567
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- Publication type:
- Article
Scp160p, a multiple KH-domain protein, is a component of mRNP complexes in yeast.
- Published in:
- Nucleic Acids Research, 2000, v. 28, n. 7, p. 1576, doi. 10.1093/nar/28.7.1576
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- Publication type:
- Article