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Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models
Since the first description of galactosemia in 1908 and despite decades of research, the pathophysiology is complex and not yet fully elucidated. Galactosemia is an inborn error of carbohydrate metabolism caused by deficient activity of any of the galactose metabolising enzymes. The current standard...
Autores principales: | Haskovic, Minela, Coelho, Ana I., Bierau, Jörgen, Vanoevelen, Jo M., Steinbusch, Laura K. M., Zimmermann, Luc J. I., Villamor‐Martinez, Eduardo, Berry, Gerard T., Rubio‐Gozalbo, M. Estela |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317974/ https://www.ncbi.nlm.nih.gov/pubmed/31808946 http://dx.doi.org/10.1002/jimd.12202 |
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