The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
- Autores
- Rozenfeld, Paula Adriana; Ceci, Romina; Roa, Norma; Kisinovsky, Isaac
- Año de publicación
- 2015
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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.
Facultad de Ciencias Exactas
Instituto de Estudios Inmunológicos y Fisiopatológicos - Materia
-
Ciencias Exactas
Ciencias Médicas
Fabry disease
α-galactosidase A deficiency
Genotype
Diagnosis
Lisosomal diseases - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- http://creativecommons.org/licenses/by/3.0/
- Repositorio
.jpg)
- Institución
- Universidad Nacional de La Plata
- OAI Identificador
- oai:sedici.unlp.edu.ar:10915/99108
Ver los metadatos del registro completo
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The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New LearningsRozenfeld, Paula AdrianaCeci, RominaRoa, NormaKisinovsky, IsaacCiencias ExactasCiencias MédicasFabry diseaseα-galactosidase A deficiencyGenotypeDiagnosisLisosomal diseasesThe 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.Facultad de Ciencias ExactasInstituto de Estudios Inmunológicos y Fisiopatológicos2015-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://sedici.unlp.edu.ar/handle/10915/99108enginfo:eu-repo/semantics/altIdentifier/url/https://ri.conicet.gov.ar/11336/53959info:eu-repo/semantics/altIdentifier/url/http://journals.sagepub.com/doi/abs/10.1177/2326409815613806info:eu-repo/semantics/altIdentifier/issn/2326-4594info:eu-repo/semantics/altIdentifier/doi/10.1177/2326409815613806info:eu-repo/semantics/altIdentifier/hdl/11336/53959info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/3.0/Creative Commons Attribution 3.0 Unported (CC BY 3.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-09-29T11:20:10Zoai:sedici.unlp.edu.ar:10915/99108Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-09-29 11:20:11.02SEDICI (UNLP) - Universidad Nacional de La Platafalse |
| dc.title.none.fl_str_mv |
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings |
| title |
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings |
| spellingShingle |
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings Rozenfeld, Paula Adriana Ciencias Exactas Ciencias Médicas Fabry disease α-galactosidase A deficiency Genotype Diagnosis Lisosomal diseases |
| 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 |
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings |
| dc.creator.none.fl_str_mv |
Rozenfeld, Paula Adriana Ceci, Romina Roa, Norma Kisinovsky, Isaac |
| author |
Rozenfeld, Paula Adriana |
| author_facet |
Rozenfeld, Paula Adriana Ceci, Romina Roa, Norma Kisinovsky, Isaac |
| author_role |
author |
| author2 |
Ceci, Romina Roa, Norma Kisinovsky, Isaac |
| author2_role |
author author author |
| dc.subject.none.fl_str_mv |
Ciencias Exactas Ciencias Médicas Fabry disease α-galactosidase A deficiency Genotype Diagnosis Lisosomal diseases |
| topic |
Ciencias Exactas Ciencias Médicas Fabry disease α-galactosidase A deficiency Genotype Diagnosis Lisosomal diseases |
| dc.description.none.fl_txt_mv |
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. Facultad de Ciencias Exactas Instituto de Estudios Inmunológicos y Fisiopatológicos |
| 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. |
| publishDate |
2015 |
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2015-10 |
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http://sedici.unlp.edu.ar/handle/10915/99108 |
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eng |
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eng |
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