R. Torra

#3812 ARE KIDNEY CYSTS MORE COMMON IN PEOPLE WITH COL4A3/COL4A4 PATHOGENIC VARIANTS?
20230 citationsauthor #10
Correction: The 2019 and 2021 International workshops on Alport syndrome
20231 citationsauthor #13
Artificial intelligence: a new field of knowledge for nephrologists?
202324 citationsauthor #8
Reply to Comments on the SENefro Consensus Document on Autosomal Dominant Polycystic Kidney Disease.
20230 citationsauthor #11
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants
202313 citationsauthor #13
FollowME Fabry Pathfinders registry: Renal effectiveness in a multi-national, multi-center cohort of patients on migalastat treatment for at least three years
20232 citationsauthor #9
‘The forgotten sex’: gender disparities in kidney disease
20233 citationsauthor #6
#4037 DEVELOPMENT OF AN EXPERT MODEL FOR THE DIAGNOSIS OF INHERITED KIDNEY DISEASES
20230 citationsauthor #9
Why do we keep ignoring sex in kidney disease?
202312 citationsauthor #4
The 2019 and 2021 International Workshops on Alport Syndrome
202227 citationsauthor #13
Flank pain has a significant adverse impact on quality of life in ADPKD: the CYSTic-QoL study
202210 citationsauthor #12
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
202230 citationsauthor #12
First results from The Spanish Fabry Women Study: A retrospective observational study describing the phenotype of female carrying genetic variants associated to Fabry disease
20220 citationsauthor #7
Right Ventricle Fatty Infiltration Evaluated by Cardiac-CT Scan in Anderson-Fabry’s Disease, A Case Report
20220 citationsauthor #4
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
202211 citationsauthor #7
Can ketogenic dietary interventions slow disease progression in ADPKD: what we know and what we don't
20228 citationsauthor #2
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
2022128 citationsauthor #52
Autosomal dominant polycystic kidney disease in young adults
202210 citationsauthor #24
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease
20221 citationsauthor #9
Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020.
20226 citationsauthor #11
From WEDA to EDTA to ERA: 60 years of supporting European Nephrology and counting.
20221 citationsauthor #4
MO009: Creatine-Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment
20220 citationsauthor #11
Dietary Aspects and Drug-Related Side Effects in Autosomal Dominant Polycystic Kidney Disease Progression
20226 citationsauthor #2
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Case Series.
202174 citationsauthor #19
Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney disease
20217 citationsauthor #4
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
20216 citationsauthor #5
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
202131 citationsauthor #2
MO023FLANK PAIN HAS A MAJOR NEGATIVE IMPACT ON HEALTH-RELATED QUALITY OF LIFE IN ADPKD: THE CYSTIC I STUDY
20211 citationsauthor #12
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
202183 citationsauthor #17
Effects of Bardoxolone Methyl in Alport Syndrome
202137 citationsauthor #23
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
202117 citationsauthor #18
Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease
20214 citationsauthor #10
Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports
202157 citationsauthor #1
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
20211 citationsauthor #5
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
202150 citationsauthor #21
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
202119 citationsauthor #13
Study Design and Baseline Characteristics of the CARDINAL Trial: A Phase 3 Study of Bardoxolone Methyl in Patients with Alport Syndrome
202142 citationsauthor #19
Autosomal dominant polycystic kidney disease: possibly the least silent cause of chronic kidney disease
20214 citationsauthor #1
Hospital-acquired influenza infections detected by a surveillance system over six seasons, from 2010/2011 to 2015/2016
202047 citationsauthor #29
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
202032 citationsauthor #19
Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1.
2020105 citationsauthor #23
Clinical trial recommendations for potential Alport syndrome therapies
202011 citationsauthor #25
P0067PREDICTORS OF LONG-TERM OUTCOME IN A SPANISH COHORT OF PATIENTS WITH FABRY DISEASE ON ENZYME REPLACEMENT THERAPY
20201 citationsauthor #5
How genomics reclassifies diseases: the case of Alport syndrome
20205 citationsauthor #1
Recommendations for the management of renal involvement in tuberous sclerosis complex
20200 citationsauthor #10
Chronic kidney disease is a key risk factor for severe COVID-19: a call to action by the ERA-EDTA
2020299 citationsauthor #11
Faculty Opinions recommendation of Multicenter, open-label, extension trial to evaluate the long-term efficacy and safety of early versus delayed treatment with tolvaptan in autosomal dominant polycystic kidney disease: the TEMPO 4:4 Trial.
20190 citationsauthor #1
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report
201952 citationsauthor #12
The presence of acute cholangitis defined by 2013 Tokyo Guidelines (TG13) in acute necrotising pancreatitis is associated with poor outcomes
20190 citationsauthor #9
Faculty Opinions recommendation of Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial.
20190 citationsauthor #1
FP416PrEFINE: SPANISH PREVALENCE OF FABRY DISEASE IN PATIENTS WITH CHRONIC KIDNEY DISEASE
20190 citationsauthor #10
Haemoconcentration on admission is a predictor of pancreatic necrosis: the association with BUN rising at 24h predicts severity in acute pancreatitis
20190 citationsauthor #10
Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy.
20198 citationsauthor #8
Faculty Opinions recommendation of The value of genetic testing in polycystic kidney diseases illustrated by a family with PKD2 and COL4A1 mutations.
20190 citationsauthor #1
Faculty Opinions recommendation of Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
20190 citationsauthor #1
Faculty Opinions recommendation of Recent advances in the molecular diagnosis of polycystic kidney disease.
20190 citationsauthor #1
Predictors of persistent common bile duct stones in mild acute biliary pancreatitis; the role of liver enzyme and dilated CBD on ultrasound
20190 citationsauthor #10
Faculty Opinions recommendation of Urinary biomarkers to identify autosomal dominant polycystic kidney disease patients with a high likelihood of disease progression.
20190 citationsauthor #1
Faculty Opinions recommendation of Genetic complexity of autosomal dominant polycystic kidney and liver diseases.
20190 citationsauthor #1
MYH9 Associated nephropathy.
20196 citationsauthor #14
Faculty Opinions recommendation of A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.
20191 citationsauthor #1
Faculty Opinions recommendation of The importance of total kidney volume in evaluating progression of polycystic kidney disease.
20190 citationsauthor #1
Faculty Opinions recommendation of Hydration and chronic kidney disease progression: A critical review of the evidence.
20190 citationsauthor #1
Faculty Opinions recommendation of Overweight and obesity are predictors of progression in early autosomal dominant polycystic kidney disease.
20190 citationsauthor #1
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
201920 citationsauthor #7
Faculty Opinions recommendation of Management of renal cyst infection in patients with autosomal dominant polycystic kidney disease: a systematic review.
20190 citationsauthor #1
Faculty Opinions recommendation of Baseline total kidney volume and the rate of kidney growth are associated with chronic kidney disease progression in Autosomal Dominant Polycystic Kidney Disease.
20190 citationsauthor #1
MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy
201941 citationsauthor #3
Faculty Opinions recommendation of Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease.
20190 citationsauthor #1
Faculty Opinions recommendation of Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.
20190 citationsauthor #1
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
2019125 citationsauthor #21
Recommendations for the management of renal involvement in the tuberous sclerosis complex.
20195 citationsauthor #10
Faculty Opinions recommendation of The PROPKD score: A new algorithm to predict renal survival in autosomal dominant polycystic kidney disease.
20190 citationsauthor #1
Revisión Nefropatía asociada a mutación del gen MYH 9
20190 citationsauthor #14
Faculty Opinions recommendation of Food restriction ameliorates the development of polycystic kidney disease.
20190 citationsauthor #1
New therapeutic options for Alport syndrome.
201946 citationsauthor #1
Recent advances in the clinical management of autosomal dominant polycystic kidney disease
20195 citationsauthor #1
Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.
201984 citationsauthor #16
Faculty Opinions recommendation of Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
20190 citationsauthor #1
MYH9 Associated nephropathy
20197 citationsauthor #14
Faculty Opinions recommendation of A mild reduction of food intake slows disease progression in an orthologous mouse model of polycystic kidney disease.
20190 citationsauthor #1
Faculty Opinions recommendation of Recent advances in the management of autosomal dominant polycystic kidney disease.
20190 citationsauthor #1
Foreword
20180 citationsauthor #1
SP024PREFINE: RESULTS OF A SPANISH SCREENING FOR FABRY DISEASE IN 10,000 PATIENTS IN DIALYSIS
20180 citationsauthor #15
SP002CLINICAL OUTCOMES WITH MIGALASTAT IN PATIENTS WITH FABRY DISEASE BASED ON DEGREE OF RENAL IMPAIRMENT: RESULTS FROM PHASE 3 TRIALS
20183 citationsauthor #1
Imaging of kidney cysts and cystic kidney diseases in children. Consensus paper by an ad hoc committee
20180 citationsauthor #16
Expert consensus guidelines for the genetic diagnosis of Alport syndrome
2018126 citationsauthor #14
A Review of the Imaging Techniques for Measuring Kidney and Cyst Volume in Establishing Autosomal Dominant Polycystic Kidney Disease Progression
201863 citationsauthor #4
Fabry Nephropathy: An Evidence-Based Narrative Review
201843 citationsauthor #14
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.
201861 citationsauthor #19
Podocyturia: why it may have added value in rare diseases
201814 citationsauthor #4
Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression
201816 citationsauthor #10
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
2018134 citationsauthor #18
Full Reviews Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome
20171 citationsauthor #7
Recommendations for imaging-based diagnosis and management of renal angiomyolipoma associated with tuberous sclerosis complex
201735 citationsauthor #3
CYSTINOSIS FORUM MORNING SESSION This symposium took place on 5 th December 2016 in Vienna , Austria Chairpersons
20170 citationsauthor #5
A review on autosomal dominant tubulointerstitial kidney disease.
20179 citationsauthor #5
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).
201711 citationsauthor #8
Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).
201711 citationsauthor #8
Cystatin C estimated glomerular filtration rate to assess renal function in early stages of autosomal dominant polycystic kidney disease
20177 citationsauthor #10

PROFILE

PAPERS

TIMELINE

COAUTHOR MAP

CONCEPT FOOTPRINT