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Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects
Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a poor genotype–phenotype correlation. In the early stages, FD could involve the pe...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9415061/ https://www.ncbi.nlm.nih.gov/pubmed/36005574 http://dx.doi.org/10.3390/metabo12080703 |