Detalhe da pesquisa
1.
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
N Engl J Med
; 384(13): 1216-1226, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33789010
2.
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney Int
; 93(4): 961-967, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398133
3.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hum Mol Genet
; 24(18): 5079-92, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26082470
4.
Clinical and molecular aspects of distal renal tubular acidosis in children.
Pediatr Nephrol
; 32(6): 987-996, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28188436
5.
Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).
Clin Sci (Lond)
; 126(10): 721-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24266877
6.
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
Nephrol Dial Transplant
; 27(8): 3191-5, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22391140
7.
Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children.
Pediatr Nephrol
; 32(6): 1095, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28258487
8.
Cysteamine toxicity in patients with cystinosis.
J Pediatr
; 159(6): 1004-11, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21784456
9.
Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial.
Clin J Am Soc Nephrol
; 16(7): 1025-1036, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33985991
10.
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Kidney Int
; 75(8): 848-55, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165178
11.
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.
Urol Res
; 37(3): 127-32, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19283374
12.
EUNEFRON, the European Network for the Study of Orphan Nephropathies.
Nephrol Dial Transplant
; 24(7): 2011-5, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19264741
13.
Aetiological factors in paediatric urolithiasis.
Nephron Clin Pract
; 98(2): c45-8, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15499205
14.
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells.
Pediatr Nephrol
; 21(4): 503-9, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16508773
15.
Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome.
Pediatr Nephrol
; 20(2): 136-40, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15627171
16.
Childhood thin GBM disease: review of 22 children with family studies and long-term follow-up.
Pediatr Nephrol
; 20(8): 1098-105, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15940548
17.
Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria.
Pediatr Nephrol
; 18(7): 712-3, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12750979
18.
Neonatal nephrocalcinosis in association with glucose-galactose malabsorption.
Pediatr Nephrol
; 18(7): 700-2, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12734749
19.
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.
Eur J Pediatr
; 163(10): 589-94, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15241688
20.
Immunolocalization of cystinosin, the protein defective in cystinosis.
J Am Soc Nephrol
; 13(8): 2046-51, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12138135