Parsing Fabry Disease Metabolic Plasticity Using Metabolomics

Background: Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal α-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a poor genotype–phenotype correlation. FD could involve kidney, heart...

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Detalles Bibliográficos
Autores principales: Ducatez, Franklin, Mauhin, Wladimir, Boullier, Agnès, Pilon, Carine, Pereira, Tony, Aubert, Raphaël, Benveniste, Olivier, Marret, Stéphane, Lidove, Olivier, Bekri, Soumeya, Tebani, Abdellah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8468728/
https://www.ncbi.nlm.nih.gov/pubmed/34575675
http://dx.doi.org/10.3390/jpm11090898

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8468728/
https://www.ncbi.nlm.nih.gov/pubmed/34575675
http://dx.doi.org/10.3390/jpm11090898

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