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New therapeutic options for Alport syndrome

Nephrology, dialysis, transplantation, 2019-08, Vol.34 (8), p.1272-1279

2019

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A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene

Genes, 2024-05, Vol.15 (6), p.679

2024

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Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study

American journal of kidney diseases, 2021-10, Vol.78 (4), p.560-570.e1

2021

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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

Nephrology, dialysis, transplantation, 2022-03, Vol.37 (4), p.687-696

2022

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Recommendations for the management of renal involvement in the tuberous sclerosis complex

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2020-03, Vol.40 (2), p.142-151

2020

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MYH9 Associated nephropathy

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2019-03, Vol.39 (2), p.133

2019

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Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

Clinical Kidney Journal, 2021-08, Vol.14 (8), p.1879-1885

2021

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Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)

Stem cell research, 2017-12, Vol.25 (C), p.291-295

2017

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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

Kidney international, 2018-08, Vol.94 (2), p.363-371

2018

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Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

Stem cell research, 2017-12, Vol.25 (C), p.1-5

2017

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Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2017-01, Vol.37 (1), p.87-92

2017

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Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

American journal of kidney diseases, 2018-09, Vol.72 (3), p.411-418

2018

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English–Latin nomenclature conundrum: should we use kidneylogy, kidneylogist?

Kidney international, 2020-11, Vol.98 (5), p.1352-1353

2020

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Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants

Nephrology, dialysis, transplantation, 2024-08, Vol.39 (9), p.1442-1448

2024

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Autosomal dominant polycystic kidney disease: possibly the least silent cause of chronic kidney disease

Clinical kidney journal, 2021-11, Vol.14 (11), p.2281-2284

2021

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Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease

Clinical kidney journal, 2022-05, Vol.15 (5), p.912-921

2022

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Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

BMC nephrology, 2019-04, Vol.20 (1), p.126-126, Article 126

2019

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Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment

Nephron (2015), 2023-04, Vol.147 (3-4), p.152-157

2023

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How genomics reclassifies diseases: the case of Alport syndrome

Clinical Kidney Journal, 2020-12, Vol.13 (6), p.933-935

2020

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Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso

Nefrología, 2023-12, Vol.43, p.90-94

2023

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Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

Nefrología, 2023-12, Vol.43, p.91-95

2023

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Lanthanum carbonate for the control of hyperphosphatemia in chronic renal failure patients: a new oral powder formulation - safety, efficacy, and patient adherence

Patient preference and adherence, 2013-01, Vol.7 (default), p.1147-1156

2013

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Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression

American journal of nephrology, 2018-11, Vol.48 (4), p.308-317

2018

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Tables for estimating the glomerular filtration rate using the new CKD-EPI equation from serum creatinine concentration

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2014, Vol.34 (2), p.223

2014

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2327 Extent of proteinuria in autosomal dominant Alport syndrome compared to X linked Alport syndrome

Nephrology, dialysis, transplantation, 2024-05, Vol.39 (Supplement_1)

2024

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New therapeutic options for Alport syndrome

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

Recommendations for the management of renal involvement in the tuberous sclerosis complex

MYH9 Associated nephropathy

Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

English–Latin nomenclature conundrum: should we use kidneylogy, kidneylogist?

Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants

Autosomal dominant polycystic kidney disease: possibly the least silent cause of chronic kidney disease

Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment

How genomics reclassifies diseases: the case of Alport syndrome

Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso

Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

Lanthanum carbonate for the control of hyperphosphatemia in chronic renal failure patients: a new oral powder formulation - safety, efficacy, and patient adherence

Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression

Tables for estimating the glomerular filtration rate using the new CKD-EPI equation from serum creatinine concentration

2327 Extent of proteinuria in autosomal dominant Alport syndrome compared to X linked Alport syndrome

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