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Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0517-9
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- Publication type:
- Article
Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 87, doi. 10.1186/1750-1172-7-87
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- Publication type:
- Article
Kidney health matters: a global imperative for public health.
- Published in:
- Nephrology Dialysis Transplantation, 2024, v. 39, n. 9, p. 1371, doi. 10.1093/ndt/gfae083
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- Publication type:
- Article
Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
- Published in:
- Nephrology Dialysis Transplantation, 2024, v. 39, n. 9, p. 1442, doi. 10.1093/ndt/gfae031
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- Publication type:
- Article
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 10, p. 1906, doi. 10.1093/ndt/gfab285
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- Publication type:
- Article
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 4, p. 687, doi. 10.1093/ndt/gfab019
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- Publication type:
- Article
New therapeutic options for Alport syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, n. 8, p. 1272, doi. 10.1093/ndt/gfz131
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- Publication type:
- Article
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.
- Published in:
- 2022
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- Publication type:
- Case Study
Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease.
- Published in:
- Biologics: Targets & Therapy, 2008, v. 2, n. 4, p. 823
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- Publication type:
- Article
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
- Published in:
- Kidney International, 2015, v. 88, n. 1, p. 17, doi. 10.1038/ki.2015.59
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- Publication type:
- Article
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.
- Published in:
- Kidney International, 2012, v. 81, n. 8, p. 779, doi. 10.1038/ki.2011.452
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- Publication type:
- Article
Analysis of published PKD1 gene sequence variants.
- Published in:
- 2007
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- Publication type:
- Letter
Factors Associated to Duration of Hepatitis A Outbreaks: Implications for Control.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031339
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- Publication type:
- Article
Estudio genético en pacientes jóvenes con enfermedad renal crónica avanzada de etiología no filiada. Diseño del estudio GENSEN.
- Published in:
- Nefrologia, 2024, v. 44, n. 4, p. 568, doi. 10.1016/j.nefro.2023.09.002
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- Publication type:
- Article
Respuesta a Comentarios sobre el Documento de Consenso de Poliquistosis Renal Autosómica Dominante de la SENefro.
- Published in:
- Nefrologia, 2023, v. 43, n. 1, p. 152, doi. 10.1016/j.nefro.2022.07.002
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- Publication type:
- Article
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
- Published in:
- Nefrologia, 2021, v. 41, n. 6, p. 652, doi. 10.1016/j.nefroe.2022.01.003
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- Publication type:
- Article
Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa.
- Published in:
- Nefrologia, 2020, v. 40, n. 2, p. 142, doi. 10.1016/j.nefro.2019.07.002
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- Publication type:
- Article
Nefropatía asociada a mutación del gen MYH9.
- Published in:
- Nefrologia, 2019, v. 39, n. 2, p. 133, doi. 10.1016/j.nefro.2018.08.008
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- Publication type:
- Article
A review on autosomal dominant tubulointerstitial kidney disease.
- Published in:
- Nefrologia, 2017, v. 37, n. 3, p. 235, doi. 10.1016/j.nefro.2016.10.024
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- Publication type:
- Article
Sangrado de angiomiolipoma renal en paciente con síndrome de genes contiguos (TSC2/PKD1) tras 17 años de tratamiento renal sustitutivo.
- Published in:
- Nefrologia, 2017, v. 37, n. 1, p. 87, doi. 10.1016/j.nefro.2016.04.007
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- Publication type:
- Article
Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto.
- Published in:
- Nefrologia, 2016, v. 36, n. 6, p. 616, doi. 10.1016/j.nefro.2016.05.012
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- Publication type:
- Article
Actualización en síndrome hemolítico urémico atípico: diagnóstico y tratamiento. Documento de consenso.
- Published in:
- Nefrologia, 2015, v. 35, n. 5, p. 421, doi. 10.1016/j.nefro.2015.07.005
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- Publication type:
- Article
Cistinosis en pacientes adolescentes y adultos: recomendaciones para la atención integral de la cistinosis.
- Published in:
- Nefrologia, 2015, v. 35, n. 3, p. 304, doi. 10.1016/j.nefro.2015.05.019
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- Publication type:
- Article
Nefropatía intersticial crónica familiar con hiperuricemia causada por el gen UMOD.
- Published in:
- Nefrologia, 2013, v. 33, n. 4, p. 587, doi. 10.3265/Nefrologia.pre2013.Apr.11960
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- Publication type:
- Article
Familial chronic interstitial nephropathy with hyperuricaemia caused by the UMOD gene.
- Published in:
- 2013
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- Publication type:
- Case Study
Actualización en síndrome hemolítico urémico atípico: diagnóstico y tratamiento. Documento de consenso.
- Published in:
- Nefrologia, 2013, v. 33, n. 1, p. 27, doi. 10.3265/Nefrologia.pre2012.Nov.11781
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- Publication type:
- Article
HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial.
- Published in:
- Trials, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13063-024-07952-x
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- Publication type:
- Article
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.
- Published in:
- 2019
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- Publication type:
- journal article
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1192, doi. 10.1038/ejhg.2014.252
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- Publication type:
- Article
Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1040, doi. 10.1038/sj.ejhg.5201452
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- Publication type:
- Article
Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 487, doi. 10.1038/sj.ejhg.5200484
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- Publication type:
- Article
Abdominal sonographic study of autosomal dominant polycystic kidney disease.
- Published in:
- 2000
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- Publication type:
- journal article
Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney disease.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-022-02599-w
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- Publication type:
- Article
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
- Published in:
- 2022
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- Publication type:
- journal article
Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment.
- Published in:
- Nephron, 2023, v. 147, n. 3/4, p. 152, doi. 10.1159/000526368
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- Publication type:
- Article
'The forgotten sex': gender disparities in kidney disease.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 4, p. 1, doi. 10.1093/ckj/sfad102
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- Publication type:
- Article
Nephrology Partnership for Advancing Technology in Healthcare (N-PATH) program: the teachers' perspective.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 1, p. 1, doi. 10.1093/ckj/sfad299
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- Publication type:
- Article
Replacing a kidney biopsy by exome sequencing in undetermined kidney diseases—not yet ready for prime time!
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 1, p. 1, doi. 10.1093/ckj/sfad250
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- Publication type:
- Article
Why do we keep ignoring sex in kidney disease?
- Published in:
- Clinical Kidney Journal, 2023, v. 16, n. 12, p. 2327, doi. 10.1093/ckj/sfad183
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- Publication type:
- Article
Artificial intelligence: a new field of knowledge for nephrologists?
- Published in:
- Clinical Kidney Journal, 2023, v. 16, n. 12, p. 2314, doi. 10.1093/ckj/sfad182
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- Publication type:
- Article
Flank pain has a significant adverse impact on quality of life in ADPKD: the CYSTic-QoL study.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 11, p. 2063, doi. 10.1093/ckj/sfac144
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- Publication type:
- Article
Can ketogenic dietary interventions slow disease progression in ADPKD: what we know and what we don't.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 6, p. 1034, doi. 10.1093/ckj/sfac103
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- Publication type:
- Article
Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 5, p. 912, doi. 10.1093/ckj/sfab293
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- Publication type:
- Article
Autosomal dominant polycystic kidney disease: possibly the least silent cause of chronic kidney disease.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 11, p. 2281, doi. 10.1093/ckj/sfab132
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- Publication type:
- Article
Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 8, p. 1879, doi. 10.1093/ckj/sfab056
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- Publication type:
- Article
How genomics reclassifies diseases: the case of Alport syndrome.
- Published in:
- Clinical Kidney Journal, 2020, v. 13, n. 6, p. 933, doi. 10.1093/ckj/sfaa170
- By:
- Publication type:
- Article
MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy.
- Published in:
- Clinical Kidney Journal, 2019, v. 12, n. 4, p. 488, doi. 10.1093/ckj/sfz103
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- Publication type:
- Article
Podocyturia: why it may have added value in rare diseases.
- Published in:
- Clinical Kidney Journal, 2019, v. 12, n. 1, p. 49, doi. 10.1093/ckj/sfy081
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- Publication type:
- Article
Foreword.
- Published in:
- Clinical Kidney Journal, 2018, v. 11, p. i1, doi. 10.1093/ckj/sfy110
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- Publication type:
- Article