Detalhe da pesquisa
1.
Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients.
Int J Mol Sci;
24(13)2023 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37446173
2.
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
Hum Mol Genet;
28(23): 3928-3939, 2019 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31600782
3.
"Lessons from Rare Forms of Osteoarthritis".
Calcif Tissue Int;
109(3): 291-302, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34417863
4.
Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces.
Calcif Tissue Int;
108(2): 207-218, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33057760
5.
Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty-seven patients with alkaptonuria.
J Inherit Metab Dis;
44(3): 656-665, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33314212
6.
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients.
J Inherit Metab Dis;
44(3): 666-676, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33452825
7.
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.
J Inherit Metab Dis;
43(2): 259-268, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31503358
8.
Nitisinone causes acquired tyrosinosis in alkaptonuria.
J Inherit Metab Dis;
43(5): 1014-1023, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32083330
9.
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
10.
Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage.
Angew Chem Int Ed Engl;
59(29): 11937-11942, 2020 07 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32219972
11.
A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria.
Clin Chem;
65(4): 530-539, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30782595
12.
Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review.
J Inherit Metab Dis;
42(5): 776-792, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31282009
13.
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
14.
Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing.
Rheumatology (Oxford);
56(1): 156-164, 2017 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28028161
15.
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
16.
Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.
Ann Rheum Dis;
73(1): 284-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23511227
17.
The role of nitisinone in tyrosine pathway disorders.
Curr Rheumatol Rep;
16(11): 457, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25266991
18.
Alkaptonuria.
Nat Rev Dis Primers;
10(1): 16, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38453957
19.
Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial.
Cells;
12(13)2023 06 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37443717
20.
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Metabolites;
12(10)2022 Oct 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36295892