Found: 9
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Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Functional correction by antisense therapy of a splicing mutation in the GALT gene.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 500, doi. 10.1038/ejhg.2014.149
- By:
- Publication type:
- Article
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2017, v. 300, n. 9, p. 1570, doi. 10.1002/ar.23616
- By:
- Publication type:
- Article
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 748, doi. 10.1002/jimd.12512
- By:
- Publication type:
- Article
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 994, doi. 10.1002/jimd.12265
- By:
- Publication type:
- Article
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 392, doi. 10.1002/jimd.12202
- By:
- Publication type:
- Article
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 117, doi. 10.1007/s10545-017-0071-1
- By:
- Publication type:
- Article
Current and Future Treatments for Classic Galactosemia.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 2, p. 75, doi. 10.3390/jpm11020075
- By:
- Publication type:
- Article
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 484, doi. 10.1002/mgg3.94
- By:
- Publication type:
- Article