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...

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Detalles Bibliográficos
Autores principales: Rocchetti, Maria Teresa, Spadaccino, Federica, Catalano, Valeria, Zaza, Gianluigi, Stallone, Giovanni, Fiocco, Daniela, Netti, Giuseppe Stefano, Ranieri, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9415061/
https://www.ncbi.nlm.nih.gov/pubmed/36005574
http://dx.doi.org/10.3390/metabo12080703

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