Detalhe da pesquisa
1.
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
J Inherit Metab Dis
; 43(4): 737-747, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609457
2.
Alkaptonuria: An example of a "fundamental disease"--A rare disease with important lessons for more common disorders.
Semin Cell Dev Biol
; 52: 53-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26891864
3.
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment.
Ann Rheum Dis
; 75(2): 362-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25475116
4.
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.
J Inherit Metab Dis
; 38(5): 791-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25860819
5.
Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases.
Trials
; 23(1): 783, 2022 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36109818
6.
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria-An approach using statistical modelling.
JIMD Rep
; 63(1): 80-92, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028273
7.
Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium.
Orphanet J Rare Dis
; 16(1): 510, 2021 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906169
8.
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care.
JIMD Rep
; 53(1): 71-79, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32395411
9.
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.
Lancet Diabetes Endocrinol
; 8(9): 762-772, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822600
10.
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Eur J Hum Genet
; 24(1): 66-72, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25804398