Detalhe da pesquisa
1.
Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells.
Lab Invest
; 104(1): 100287, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949358
2.
Calcineurin inhibitor-related hyperkalemia is caused by hyporeninemic hypoaldosteronism and fludrocortisone is an effective treatment: Report of a case series and review of the literature.
Pediatr Transplant
; 28(4): e14778, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38767038
3.
Acute kidney injury in children with moderate-severe COVID-19 and multisystem inflammatory syndrome in children: a referral center experience.
Pediatr Nephrol
; 39(3): 867-877, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37676500
4.
Variable phenotype and genotype of pediatric patients with HNF1B nephropathy.
Clin Nephrol
; 2024 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38699986
5.
Adolescence-onset atypical hemolytic uremic syndrome: is it different from infant-onset?
Clin Exp Nephrol
; 2024 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38704765
6.
COVID-19 in Children with Chronic Kidney Disease; Does it Differ Much?
Klin Padiatr
; 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224686
7.
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
Clin Genet
; 104(6): 679-685, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468454
8.
Mitigation of portal fibrosis and cholestatic liver disease in ANKS6-deficient livers by macrophage depletion.
FASEB J
; 36(2): e22157, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032404
9.
Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.
Audiol Neurootol
; 28(5): 350-359, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37121229
10.
A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature.
Pediatr Nephrol
; 38(3): 711-719, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35748945
11.
Predictors of kidney complications and analysis of hypertension in children with allogeneic hematopoietic stem cell transplantation.
Pediatr Nephrol
; 38(2): 461-469, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35596092
12.
Long-term kidney follow-up after pediatric acute kidney support therapy for children less than 15 kg.
Pediatr Nephrol
; 38(11): 3811-3821, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195543
13.
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression.
Pediatr Nephrol
; 38(5): 1499-1511, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315273
14.
COVID-19 associated thrombotic microangiopathy.
Nephrology (Carlton)
; 28(10): 557-560, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37485596
15.
Metabolomic Analyses to Identify Candidate Biomarkers of Cystinosis.
Int J Mol Sci
; 24(3)2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768921
16.
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Kidney Int
; 102(3): 592-603, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35483523
17.
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Kidney Int
; 102(3): 604-612, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643375
18.
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
Clin Genet
; 101(3): 346-358, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964109
19.
Long-term renal survival of paediatric patients with lupus nephritis.
Nephrol Dial Transplant
; 37(6): 1069-1077, 2022 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33826705
20.
A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability.
Pediatr Nephrol
; 37(8): 1855-1866, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35034193