Publish in this journal
Journal Information
Vol. 218. Num. 1.January - February 2018
Pages 1-48
Share
Share
Download PDF
More article options
ePub
Visits
2
Vol. 218. Num. 1.January - February 2018
Pages 1-48
Review
DOI: 10.1016/j.rceng.2017.09.001
The pathophysiology of Fabry disease
Fisiopatología de la enfermedad de Fabry
Visits
2
S. Olivera-Gonzáleza,
Corresponding author
susana.olivera@yahoo.es

Corresponding author.
, C. Josa-Laordenb, M.A. Torralba-Cabezaa
a Unidad de Enfermedades Minoritarias, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain
b Servicio de Medicina Interna, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain
This item has received
2
Visits
Article information
Statistics
Figures (2)
Abstract

Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients. We conducted a comprehensive review of the pathogenic mechanisms that occur in Fabry disease.

Keywords:
Fabry disease
Pathophysiology
Resumen

La enfermedad de Fabry es una entidad lisosomal de expresión clínica sistémica, causada por el depósito tisular de globotriaosilceramida, debido a un déficit en su degradación. Como en la mayoría de las enfermedades lisosomales, la existencia de una mutación en un gen no explica las alteraciones fisiopatológicas que presentan los pacientes. Se realiza una revisión exhaustiva de los mecanismos patogénicos que acontecen en la enfermedad de Fabry.

Palabras clave:
Enfermedad de Fabry
Fisiopatología

Article

These are the options to access the full texts of the publication Revista Clínica Española (English Edition)
Subscriber
Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”
Subscribe
Subscribe to

Revista Clínica Española (English Edition)

Contact
Telephone
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
902 88 87 40
Calls from outside Spain
+34 932 418 800
E-mail
Idiomas
Revista Clínica Española (English Edition)

Subscribe to our Newsletter

Article options
Tools
es en
Política de cookies Cookies policy
Utilizamos cookies propias y de terceros para mejorar nuestros servicios y mostrarle publicidad relacionada con sus preferencias mediante el análisis de sus hábitos de navegación. Si continua navegando, consideramos que acepta su uso. Puede cambiar la configuración u obtener más información aquí. To improve our services and products, we use "cookies" (own or third parties authorized) to show advertising related to client preferences through the analyses of navigation customer behavior. Continuing navigation will be considered as acceptance of this use. You can change the settings or obtain more information by clicking here.
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?