Detalhe da pesquisa
1.
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
J Inherit Metab Dis
; 46(1): 43-54, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36117148
2.
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Kidney Int
; 100(5): 1112-1123, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34237326
3.
Dynamic prediction models for graft failure in paediatric kidney transplantation.
Nephrol Dial Transplant
; 36(5): 927-935, 2021 04 26.
Artigo
Inglês
| MEDLINE | ID: mdl-32989448
4.
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
Inglês
| MEDLINE | ID: mdl-33635379
5.
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
Inglês
| MEDLINE | ID: mdl-32989611
6.
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
Inglês
| MEDLINE | ID: mdl-32712761
7.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
; 101(5): 803-814, 2017 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29100091
8.
Treatment by immunoadsorption for recurrent focal segmental glomerulosclerosis after paediatric kidney transplantation: a multicentre French cohort.
Nephrol Dial Transplant
; 33(6): 954-963, 2018 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28992235
9.
Patient and transplant outcome in infants starting renal replacement therapy before 2 years of age.
Nephrol Dial Transplant
; 33(8): 1459-1465, 2018 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29617835
10.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 28(10): 2901-2914, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28566479
11.
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
J Am Soc Nephrol
; 28(8): 2540-2552, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28381550
12.
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Am J Hum Genet
; 94(6): 905-14, 2014 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-24882706
13.
Observations of a large Dent disease cohort.
Kidney Int
; 90(2): 430-439, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27342959
14.
[Transition of care from childhood and adolescence to adulthood in nephrology]. / Transition de soins de l'enfance et de l'adolescence à l'âge adulte en néphrologie.
Med Sci (Paris)
; 38(2): 182-190, 2022 Feb.
Artigo
Francês
| MEDLINE | ID: mdl-35179473
15.
National survey of prevention and management of CMV infection in pediatric kidney transplantation in comparison to clinical practice guidelines.
Front Pediatr
; 10: 1057352, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36589153
16.
Valganciclovir is not associated with decreased EBV infection rate in pediatric kidney transplantation.
Front Pediatr
; 10: 1085101, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36704127
17.
Social Deprivation Is Associated With Lower Access to Pre-emptive Kidney Transplantation and More Urgent-Start Dialysis in the Pediatric Population.
Kidney Int Rep
; 7(4): 741-751, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-35497781
18.
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Nephrol Dial Transplant
; 24(5): 1455-64, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19096086
19.
Complement Gene Variants and Shiga Toxin-Producing Escherichia coli-Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study.
Clin J Am Soc Nephrol
; 14(3): 364-377, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30674459
20.
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Nat Commun
; 10(1): 3967, 2019 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31481669