Clinical heterogeneity in Fabry disease: A clinical case
Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic therapy.<b> </b>Clinical case of late (...
Main Authors: | Assel Issabekova, Olga Mashkunova |
---|---|
Format: | Article |
Language: | English |
Published: |
National Scientific Medical Center
2023-08-01
|
Series: | Ķazaķstannyṇ Klinikalyķ Medicinasy |
Subjects: | |
Online Access: | https://www.clinmedkaz.org/download/clinical-heterogeneity-in-fabry-disease-a-clinical-case-13486.pdf |
Similar Items
-
Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso
by: Pablo Rodríguez Doyágüez, et al.
Published: (2023-12-01) -
Characterization of small fiber pathology in a mouse model of Fabry disease
by: Lukas Hofmann, et al.
Published: (2018-10-01) -
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
by: Pisani Antonio, et al.
Published: (2012-06-01) -
Dysregulated DNA methylation in the pathogenesis of Fabry disease
by: Jin-Song Shen, et al.
Published: (2022-12-01) -
FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER
by: Cristina Netto, et al.
Published: (2020-01-01)