Detalhe da pesquisa
1.
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Kidney Int;
105(5): 1058-1076, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38364990
2.
PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2.
Kidney Int;
103(1): 207-217, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36007597
3.
Three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I.
Pediatr Nephrol;
38(7): 2083-2092, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36472654
4.
The retinal phenotype in primary hyperoxaluria type 2 and 3.
Pediatr Nephrol;
38(5): 1485-1490, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36260161
5.
Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria.
Kidney Int;
101(3): 626-634, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34481803
6.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Am J Hum Genet;
104(5): 994-1006, 2019 05 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31051115
7.
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
Mol Genet Metab;
136(4): 268-273, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35835062
8.
A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3.
Kidney Int;
100(3): 621-635, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33865885
9.
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Clin Genet;
99(1): 143-156, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33040356
10.
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Am J Med Genet A;
185(12): 3784-3792, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34338422
11.
Effects of Oxalobacter formigenes in subjects with primary hyperoxaluria Type 1 and end-stage renal disease: a Phase II study.
Nephrol Dial Transplant;
36(8): 1464-1473, 2021 07 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32810261
12.
Endurance-oriented training program with children and adolescents on maintenance hemodialysis to enhance dialysis efficacy-DiaSport.
Pediatr Nephrol;
36(12): 3923-3932, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34117528
13.
A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome.
Kidney Int;
97(6): 1275-1286, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32299679
14.
Inherited conditions resulting in nephrolithiasis.
Curr Opin Pediatr;
32(2): 273-283, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31789978
15.
Plasma oxalate levels in primary hyperoxaluria type I show significant intra-individual variation and do not correlate with kidney function.
Pediatr Nephrol;
35(7): 1227-1233, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32274573
16.
Endurance training during maintenance hemodialysis in pediatric and adolescent patients-theory and best practice suggestions.
Pediatr Nephrol;
35(4): 595-602, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30603808
17.
Oxalobacter formigenes treatment combined with intensive dialysis lowers plasma oxalate and halts disease progression in a patient with severe infantile oxalosis.
Pediatr Nephrol;
35(6): 1121-1124, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32107618
18.
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Kidney Int;
96(6): 1389-1399, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31685312
19.
Genetic kidney stones disease in adults.
Nephrol Dial Transplant;
2024 May 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38744536
20.
Targeting kidney inflammation as a new therapy for primary hyperoxaluria?
Nephrol Dial Transplant;
34(6): 908-914, 2019 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30169827