Les biomarqueurs dans la maladie de Fabry: relation entre Sphingosine-1 phosphate et Lyso-Gb3 [PDF]
, 2012 Problématique : La maladie de Fabry est une maladie métabolique à stockage lysosomal. C'est une maladie héreditaire à transmission récessive qui concerne l'enzyme alpha-Galactosidase A. Le gène de l'alpha-Galactosidase A (GLA) se trouve au niveau du bras
Moro, D.
core
Stem Cell ResearchFabry disease (FD) is a rare and inherited monogenetic disease caused by mutations in the X-chromosomal alpha-galactosidase A gene GLA concomitant with accumulation of its substrate globotriaosylceramide (Gb3) and multi-organ symptoms.
Christopher Jahn +10 more
doaj +1 more source
Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease
Stem Cell ResearchFabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA).
Zihan Li +7 more
doaj +1 more source
The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease [PDF]
, 2009 Richie Khanna +12 more
openalex +1 more source
Globotriaosylceramide Immunostaining of Myocardium in a Patient With Fabry Disease
Circulation Journal, 2022 Satoru, Yoshida +5 more
openaire +2 more sources
Expression of the verotoxin receptor glycolipid, globotriaosylceramide, in ovarian hyperplasias.
Oncology research, 1998 The presence of cell surface receptor glycolipid, globotriaosylceramide (Gb3), is essential to confer susceptibility to the E. coli-derived verotoxin (VT). Our earlier studies showed that Gb3 is expressed in ovarian carcinoma cell lines. The Gb3 content of normal ovary, benign and malignant primary ovarian tumors, and their metastases have now been ...
S, Arab +4 more
openaire +1 more source
Do we need more intensive enzyme replacement therapy for Anderson-Fabry disease? [PDF]
, 2009 Bašić-Jukić, Nikolina +3 more
core +1 more source
Erratum to: Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections [PDF]
, 2012 Carmen Valbuena +3 more
openalex +1 more source
Role of the Shiga toxin in the Hemolytic Uremic Syndrome [PDF]
, 2006 En los últimos años, las infecciones por Escherichia coli productor de toxina Shiga (STEC) y el desarrollo del Síndrome Urémico Hemolítico (SUH) han cobrado tal relevancia desde el punto de vista clínico y como problema de salud pública, que se considera
Boccoli, Javier +6 more
core