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List of works by João Paulo Oliveira

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

scientific article published on 16 May 2014

Angiokeratomas of Fabry successfully treated with intense pulsed light

scientific article

Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients

scientific article published on 01 November 2008

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis

scientific article published on 20 August 2014

Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients

scientific article published on 16 October 2012

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.

scientific article published on 19 August 2013

Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy.

scientific article published on 07 January 2010

Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

scientific article

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry

scientific article

Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease

scientific article published on 01 September 2004

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene

scientific article

Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease

scientific article published on 07 August 2020

Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males

scientific article published on 11 June 2019

Fabry disease: Detection of Alu-mediated exon duplication by NGS

scientific article published on 29 March 2019

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

scientific article

Formal recognition of the speciality of medical genetics in Portugal

scientific article published in January 2000

Functional transcranial Doppler: presymptomatic changes in Fabry disease

scientific article published on 4 May 2012

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2→8qter

article

Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction

scientific article published on 20 September 2014

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

scientific article published on 14 August 2010

Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections

scientific article published on 29 December 2011

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy

scientific article published on 04 September 2008

Kidney histologic alterations in α-Galactosidase-deficient mice

scientific article published on 16 February 2011

More on noncompaction in Fabry's disease

scientific article published on 03 April 2015

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations

scientific article published on 05 March 2019

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients

scientific article

Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations

scientific article published on 16 March 2009

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy

scientific article published on 5 January 2008

Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination

scientific article published on 3 June 2009

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

scientific article

Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults

scientific article published on 22 April 2008

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

scientific article

Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease

scientific article

Staging of Fabry disease using renal biopsies

scientific article published on 01 January 2007

The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific

scientific article published on 13 March 2015

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

scientific article

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

scientific article

Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.

scientific article published on 27 March 2017

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

scientific article published on 9 June 2015

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