Newborn Screening for Fabry Disease: Current Status of Knowledge

Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthoo...

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Detalles Bibliográficos
Autores principales: Gragnaniello, Vincenza, Burlina, Alessandro P., Commone, Anna, Gueraldi, Daniela, Puma, Andrea, Porcù, Elena, Stornaiuolo, Maria, Cazzorla, Chiara, Burlina, Alberto B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299185/
https://www.ncbi.nlm.nih.gov/pubmed/37367212
http://dx.doi.org/10.3390/ijns9020031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299185/
https://www.ncbi.nlm.nih.gov/pubmed/37367212
http://dx.doi.org/10.3390/ijns9020031

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