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.
Association between timing of dialysis initiation and clinical outcomes in the paediatric population: an ESPN/ERA-EDTA registry study.
Nephrol Dial Transplant
; 34(11): 1932-1940, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31038179
3.
Long-term renal outcomes of APRT deficiency presenting in childhood.
Pediatr Nephrol
; 34(3): 435-442, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30443743
4.
Incidence of kidney stone disease in Icelandic children and adolescents from 1985 to 2013: results of a nationwide study.
Pediatr Nephrol
; 33(8): 1375-1384, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29626242
5.
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Am J Kidney Dis
; 67(3): 431-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26724837
6.
Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry.
Am J Kidney Dis
; 68(5): 782-788, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27555106
7.
Impact of nephrolithiasis on kidney function.
BMC Nephrol
; 16: 149, 2015 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-26316205
8.
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
9.
Diversity of kidney care referral pathways in national child health systems of 48 European countries.
Front Pediatr
; 12: 1327422, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38292210
10.
Temporal trends in the incidence of kidney stone disease.
Kidney Int
; 83(1): 146-52, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22992468
11.
Hereditary causes of kidney stones and chronic kidney disease.
Pediatr Nephrol
; 28(10): 1923-42, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23334384
12.
Birth weight and childhood blood pressure.
Curr Hypertens Rep
; 14(6): 596-602, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054892
13.
Kidney Transplantation in Small Children: Association Between Body Weight and Outcome-A Report From the ESPN/ERA-EDTA Registry.
Transplantation
; 106(3): 607-614, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795596
14.
An unusual cause of pink diapers in an infant: Questions and Answers.
Pediatr Nephrol
; 31(4): 575, 577-80, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25823987
15.
An unusual cause of "pink diaper" in an infant: Answers.
Pediatr Nephrol
; 31(4): 577-80, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25823988
16.
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
17.
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Kidney Int Rep
; 6(11): 2862-2884, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34805638
18.
Blood pressure in children and target-organ damage later in life.
Pediatr Nephrol
; 25(2): 323-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19946710
19.
Stone recurrence among childhood kidney stone formers: results of a nationwide study in Iceland.
Urolithiasis
; 48(5): 409-417, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32107578
20.
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