Early Renal Involvement in a Girl with Classic Fabry Disease
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversia...
Saved in:
Main Authors: | Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2017-01-01
|
Series: | Case Reports in Nephrology |
Online Access: | http://dx.doi.org/10.1155/2017/9543079 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Major Organic Involvement in Women with Fabry Disease in Argentina
by: Fernando Perretta, et al.
Published: (2018-01-01) -
High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease
by: Sebastián Jaurretche, et al.
Published: (2019-01-01) -
Fabry Disease and Early Stroke
by: U. Feldt-Rasmussen
Published: (2011-01-01) -
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease
by: Mónica Furlano, et al.
Published: (2022-01-01) -
Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease
by: H. Trimarchi, et al.
Published: (2015-01-01)