Detalhe da pesquisa
1.
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Mol Genet Metab
; 128(1-2): 144-150, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31378568
2.
Impact of nephrolithiasis on kidney function.
BMC Nephrol
; 16: 149, 2015 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-26316205
3.
Optimization and validation of a UPLC-MS/MS assay for simultaneous quantification of 2,8-dihydroxyadenine, adenine, allopurinol, oxypurinol and febuxostat in human plasma.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1235: 124041, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359644
4.
Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study.
Commun Med (Lond)
; 3(1): 94, 2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414856
5.
HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2.
Commun Biol
; 5(1): 914, 2022 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068292
6.
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Eur J Hum Genet
; 29(7): 1061-1070, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707627
7.
Monoclonal gammopathy of undetermined significance and COVID-19: a population-based cohort study.
Blood Cancer J
; 11(12): 191, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34853309
8.
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
Urolithiasis
; 48(4): 337-344, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399606
9.
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Eur J Intern Med
; 48: 75-79, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29241594
10.
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1036-1037: 170-177, 2016 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27770717
11.
Gender comparison of factors associated with age-related differences in bone mineral density.
Arch Osteoporos
; 10: 214, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26239743
12.
Corrigendum to "Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency" [J. Chromatogr. B 1036-1037 (2016) 170-177].
J Chromatogr B Analyt Technol Biomed Life Sci
; 1092: 530, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861153