Detalhe da pesquisa
1.
A comprehensive model for assessing and classifying patients with thrombotic microangiopathy: the TMA-INSIGHT score.
Thromb J
; 21(1): 119, 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993892
2.
Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.
Pediatr Nephrol
; 32(6): 1089-1092, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28210839
3.
N-acetyl-cysteine is associated to renal function improvement in patients with nephropathic cystinosis.
Pediatr Nephrol
; 29(6): 1097-102, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24326786
4.
Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts.
Mol Genet Genomic Med
; 12(2): e2387, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38337160
5.
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Nephron
; 147(8): 478-495, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36882007
6.
Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021.
J Bras Nefrol
; 44(2): 249-267, 2022.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-35212703
7.
Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN).
J Bras Nefrol
; 44(2): 268-280, 2022.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-35238862
8.
Distal Renal Tubular Acidosis Associated with Autoimmune Diseases: Reports of 3 Cases and Review of Mechanisms.
Am J Case Rep
; 23: e933957, 2022 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094004
9.
Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosis.
JIMD Rep
; 63(1): 66-79, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028272
10.
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry.
Clin Kidney J
; 15(8): 1601-1611, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35892013
11.
Eculizumab interruption in atypical hemolytic uremic syndrome due to shortage: analysis of a Brazilian cohort.
J Nephrol
; 34(4): 1373-1380, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33387344
12.
Report of a Brazilian multicenter study on nephropathic cystinosis.
Nephron Clin Pract
; 114(1): c12-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19816039
13.
COMDORA-SBN recommendations for patients with rare kidney diseases in relation to the Covid-19 pandemic.
J Bras Nefrol
; 42(2 suppl 1): 36-40, 2020 Aug 26.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-32877497
14.
A plain abdominal x-ray may direct the diagnosis of primary hyperoxaluria.
J Bras Nefrol
; 46(2): e20230032, 2024.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-38358912
15.
Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease.
J Bras Nefrol
; 41(1): 131-141, 2019.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-30465592
16.
Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN) / Recomendações para o diagnóstico e manejo de pacientes pediátricos com doença de Fabry: documento do comitê de doenças raras da Sociedade Brasileira de Nefrologia (Comdora-SBN)
J. bras. nefrol
; 44(2): 268-280, June 2022. tab, graf
Artigo
em Inglês
| LILACS, BIGG | ID: biblio-1386024
17.
Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021 / Consenso brasileiro de doença de fabry: recomendações de diagnóstico, triagem e tratamento. Comitê de doenças raras (Comdora) - SBN/2021
J. bras. nefrol
; 44(2): 249-267, June 2022. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1386037
18.
Letter to the Editor: "Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors".
J Endocr Soc
; 4(4): bvaa013, 2020 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32309752
19.
COMDORA-SBN recommendations for patients with rare kidney diseases in relation to the Covid-19 pandemic / Recomendações do COMDORA-SBN a pacientes portadores de doenças renais raras em relação à pandemia de Covid-19
J. bras. nefrol
; 42(2,supl.1): 36-40, 2020. tab, graf
Artigo
em Inglês
| LILACS | ID: biblio-1134838
20.
Hemolytic-Uremic Syndrome in childhood.
J Bras Nefrol
; 36(2): 208-20, 2014.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-25055362