Detalhe da pesquisa
1.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Pediatr Nephrol
; 39(6): 1847-1858, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196016
2.
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
em Inglês
| MEDLINE | ID: mdl-36117148
3.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Kidney Int
; 100(3): 650-659, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33940108
4.
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Ren Fail
; 43(1): 62-70, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349102
5.
Relationship between Gd-IgA1 and TNFR1 in IgA nephropathy and IgA vasculitis nephritis in children - multicenter study.
Cent Eur J Immunol
; 46(2): 199-209, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34764788
6.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
7.
Multicenter analysis of the efficacy and safety of a non-standard immunosuppressive therapy with rituximab in children with steroid-resistant nephrotic syndrome.
Clin Exp Pharmacol Physiol
; 46(4): 313-321, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346047
8.
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Nephrol Dial Transplant
; 33(1): 85-94, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708066
9.
[Recurrent urolithiasis as a symptom of primary hyperparathyroidism in a 16-year-old boy]. / Nawracajaca kamica ukladu moczowego jako objaw pierwotnej nadczynnosci przytarczyc u 16-letniego chlopca.
Pol Merkur Lekarski
; 44(262): 208-210, 2018 Apr 23.
Artigo
em Polonês
| MEDLINE | ID: mdl-29775451
10.
[Influence of intensity, localization and type of deposits in renal biopsy for disease symptoms and follow up in children with IgA nephropathy]. / Wplyw nasilenia, lokalizacji i rodzaju zlogów w biopsji nerki na objawy kliniczne i rokowanie u dzieci z nefropatia IgA.
Pol Merkur Lekarski
; 44(262): 177-182, 2018 Apr 23.
Artigo
em Polonês
| MEDLINE | ID: mdl-29775444
11.
Serum GDIgA1 levels in children with IgA nephropathy and Henoch-Schönlein nephritis.
Cent Eur J Immunol
; 43(2): 162-167, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135628
12.
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
J Am Soc Nephrol
; 27(2): 604-14, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26047794
13.
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
Nephrol Dial Transplant
; 30(4): 636-44, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25477417
14.
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Pediatr Nephrol
; 30(6): 931-43, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480730
15.
Dent disease in children: diagnostic and therapeutic considerations.
Clin Nephrol
; 84(4): 222-30, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26308078
16.
Bilateral slipped capital femoral epiphysis in a male adolescent with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), chronic renal failure, and severe hyperparathyroidism.
Eur J Pediatr
; 172(11): 1551-5, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23455761
17.
Chronic liver disease and hepatic calcium-oxalate deposition in patients with primary hyperoxaluria type I.
Sci Rep
; 12(1): 16725, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202824
18.
Nephropathic cystinosis in Poland: a 40-year retrospective study.
Pol Arch Intern Med
; 132(11)2022 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997069
19.
Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome.
Nephron
; 145(5): 579-584, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34058744
20.
IgA vasculitis nephritis clinical course and kidney biopsy - national study in children.
Pediatr Rheumatol Online J
; 19(1): 150, 2021 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620183