Joao-paulo P. Oliveira
Porto, Portugal
Last Updated: 09/26/2026
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Found 12 publications
A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease.
Journal: Molecular genetics and metabolism
Published: September 26, 2025
Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing.
Journal: Molecular genetics and metabolism
Published: March 19, 2025
GLA insufficiency should not be called Fabry disease.
Journal: European journal of human genetics : EJHG
Published: December 06, 2023
Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases.
Journal: Kidney international
Published: June 23, 2022
Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.
Journal: Journal of the American Society of Nephrology : JASN
Published: May 15, 2019
The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.
Journal: Molecular genetics and metabolism reports
Published: January 23, 2019
European expert consensus statement on therapeutic goals in Fabry disease.
Journal: Molecular genetics and metabolism
Published: April 05, 2018
Urban vs. extra-urban environments: scales of variation of intertidal benthic assemblages in north Portugal.
Journal: Marine environmental research
Published: January 15, 2014
Prevention of ventilator-associated pneumonia.
Journal: Revista portuguesa de pneumologia
Published: September 09, 2013
Fibrosis: a key feature of Fabry disease with potential therapeutic implications.
Journal: Orphanet journal of rare diseases
Published: April 22, 2013
Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.
Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.
Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
Published: October 18, 2012
GNAS A-1121G variant is associated with improved diastolic dysfunction in response to exercise training in heart failure patients.
Journal: International journal of sports medicine
Published: October 16, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026