The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings

The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to accumulation of its substrate globotriaosylceram...

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Detalles Bibliográficos
Autores principales: Rozenfeld, Paula Adriana, Ceci, Romina, Roa, Norma, Kisinovsky, Isaac
Formato: Articulo
Lenguaje:Inglés
Publicado: 2015
Materias:
Ciencias Exactas
Ciencias Médicas
Fabry disease
α-galactosidase A deficiency
Genotype
Diagnosis
Lisosomal diseases
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/99108
https://ri.conicet.gov.ar/11336/53959
http://journals.sagepub.com/doi/abs/10.1177/2326409815613806
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata

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