Detalhe da pesquisa
1.
The Examination of a TPMT Gene Before Administration of Azathioprine in Rheumatology Practice and Identification of a Novel Variant p.W29R.
J Clin Rheumatol
; 28(2): e363-e367, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34870401
2.
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.
Int J Mol Sci
; 22(4)2021 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669292
3.
Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients.
Ann Rheum Dis
; 79(5): 657-665, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32238385
4.
Rapid and reliable HILIC-MS/MS method for monitoring allantoin as a biomarker of oxidative stress.
Anal Biochem
; 589: 113509, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31747555
5.
Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.
Ann Rheum Dis
; 78(10): 1430-1437, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31289104
6.
Urinary oxypurinol is a useful tool to assess adherence to allopurinol in clinical practice.
Rheumatology (Oxford)
; 2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38197578
7.
Biochemical characterization of Jr(a-) blood type-related ABCG2 variants: Arg147Trp and Ser572Arg disrupt the plasma membrane localization of ABCG2.
Transfusion
; 64(2): 412-414, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38379528
8.
Serum uric acid increases in patients with systemic autoimmune rheumatic diseases after 3 months of treatment with TNF inhibitors.
Rheumatol Int
; 39(10): 1749-1757, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363829
9.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Rheumatology (Oxford)
; 57(7): 1180-1185, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423175
10.
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).
Toxicol Appl Pharmacol
; 353: 102-108, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29935280
11.
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
BMC Pediatr
; 18(1): 210, 2018 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29958533
12.
GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
Ann Rheum Dis
; 76(5): 869-877, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899376
13.
Functional non-synonymous variants of ABCG2 and gout risk.
Rheumatology (Oxford)
; 56(11): 1982-1992, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28968913
14.
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Blood
; 135(26): 2427-2431, 2020 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276275
15.
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
Clin Exp Nephrol
; 20(4): 578-584, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26500098
16.
Severe hyperuricemia in two children with acute gastroenteritis: Questions.
Pediatr Nephrol
; 35(8): 1429-1430, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052151
17.
Severe hyperuricemia in two children with acute gastroenteritis: answers.
Pediatr Nephrol
; 35(8): 1431-1435, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052152
18.
Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.
Dis Markers
; 2024: 5930566, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38222853
19.
Hypouricemia and hyperuricosuria in a pubescent girl: Questions.
Pediatr Nephrol
; 33(12): 2275, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29532230
20.
Hypouricemia and hyperuricosuria in a pubescent girl: Answers.
Pediatr Nephrol
; 33(12): 2277-2279, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29532232