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

Rozenfeld, Paula Adriana et al · SAGE Publications · 2015

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Author / responsible party
Rozenfeld, Paula Adriana et al
Publisher
SAGE Publications
Year
2015
ISSN
2326-4594
ISSN
2326-4594
Language
English

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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. Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina Fil: Ceci, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina

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APA 7

Rozenfeld, P. A. E. A. (2015). The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings. http://hdl.handle.net/11336/53959

MLA

Rozenfeld, Paula Adriana et al. "The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings." 2015. http://hdl.handle.net/11336/53959.

Chicago

Rozenfeld, Paula Adriana et al. 2015. "The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings.". http://hdl.handle.net/11336/53959.

Harvard

Rozenfeld, P. A. E. A. 2015, The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings, SAGE Publications, available at: http://hdl.handle.net/11336/53959 [Accessed 6 Aug. 2026].

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Title
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings
Author / contributors
Rozenfeld, Paula Adriana et al
Publisher
SAGE Publications
Publication year
2015
ISSN
2326-4594
ISSN
2326-4594
Language
English

Subjects

Explore related resources through these subjects.

FABRY DISEASE; ALPHA GALACTOSIDASE DEFICIENCY; GENOTYPE; DIAGNOSIS; https://purl.org/becyt/ford/3.1; https://purl.org/becyt/ford/3
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