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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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
id I19-R120-10915-99108
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Exactas
Ciencias Médicas
Fabry disease
α-galactosidase A deficiency
Genotype
Diagnosis
Lisosomal diseases
spellingShingle Ciencias Exactas
Ciencias Médicas
Fabry disease
α-galactosidase A deficiency
Genotype
Diagnosis
Lisosomal diseases
Rozenfeld, Paula Adriana
Ceci, Romina
Roa, Norma
Kisinovsky, Isaac
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
topic_facet Ciencias Exactas
Ciencias Médicas
Fabry disease
α-galactosidase A deficiency
Genotype
Diagnosis
Lisosomal diseases
description 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 globotriaosylceramide. Diagnosis of FD starts with clinical suspicion followed by confirmatory laboratory testing. The aim of this work is to report the 14 years’ experience and learnings in the diagnosis of patients with Fabry disease in Argentina from a specialized lysosomal diseases diagnosis laboratory and to report the genotype characterization of the 25 families from Argentina with FD detected by us.
format Articulo
Articulo
author Rozenfeld, Paula Adriana
Ceci, Romina
Roa, Norma
Kisinovsky, Isaac
author_facet Rozenfeld, Paula Adriana
Ceci, Romina
Roa, Norma
Kisinovsky, Isaac
author_sort Rozenfeld, Paula Adriana
title The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
title_short The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
title_full The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
title_fullStr The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
title_full_unstemmed The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
title_sort continuous challenge of diagnosing patients with fabry disease in argentina: genotype, experiences, anecdotes, and new learnings
publishDate 2015
url http://sedici.unlp.edu.ar/handle/10915/99108
https://ri.conicet.gov.ar/11336/53959
http://journals.sagepub.com/doi/abs/10.1177/2326409815613806
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