Detalhe da pesquisa
1.
Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants.
N Engl J Med
; 388(11): 969-979, 2023 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920755
2.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Am J Hum Genet
; 109(8): 1484-1499, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896117
3.
Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Nature
; 568(7752): E6, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30944482
4.
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Nature
; 558(7711): 540-546, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899452
5.
A wave of deep intronic mutations in X-linked Alport syndrome.
Kidney Int
; 104(2): 367-377, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230224
6.
Venglustat, a Novel Glucosylceramide Synthase Inhibitor, in Patients at Risk of Rapidly Progressing ADPKD: Primary Results of a Double-Blind, Placebo-Controlled, Phase 2/3 Randomized Clinical Trial.
Am J Kidney Dis
; 81(5): 517-527.e1, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36535535
7.
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Clin Genet
; 101(4): 390-402, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927718
8.
Clinicopathologic predictors of renal outcomes in light chain cast nephropathy: a multicenter retrospective study.
Blood
; 135(21): 1833-1846, 2020 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32160635
9.
COVID-19 outbreak in vaccinated patients from a haemodialysis unit: antibody titres as a marker of protection from infection.
Nephrol Dial Transplant
; 37(7): 1357-1365, 2022 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104884
10.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol
; 32(6): 1498-1512, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811157
11.
Cystinuria: clinical practice recommendation.
Kidney Int
; 99(1): 48-58, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32918941
12.
Hydrochlorothiazide and Prevention of Kidney-Stone Recurrence.
N Engl J Med
; 388(21): 2013-2014, 2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37224210
13.
Randall-type monoclonal immunoglobulin deposition disease: novel insights from a nationwide cohort study.
Blood
; 133(6): 576-587, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578255
14.
Study Design and Baseline Characteristics of the CARDINAL Trial: A Phase 3 Study of Bardoxolone Methyl in Patients with Alport Syndrome.
Am J Nephrol
; 52(3): 180-189, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33789284
15.
Safety, efficacy, and acceptability of ADV7103 during 24 months of treatment: an open-label study in pediatric and adult patients with distal renal tubular acidosis.
Pediatr Nephrol
; 36(7): 1765-1774, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33635379
16.
Correction to: Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments.
Pediatr Nephrol
; 36(1): 215, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989611
17.
Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments.
Pediatr Nephrol
; 36(1): 83-91, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32712761
18.
AA amyloidosis associated with Fabry disease.
Int J Clin Pract
; 74(10): e13577, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515527
19.
mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases.
Kidney Int
; 95(2): 455-466, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471880
20.
Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France.
BJU Int
; 124(5): 849-861, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801923