Detalhe da pesquisa
1.
Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone.
Ann Rheum Dis
; 83(4): 529-536, 2024 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38123339
2.
Clinical presentation of 13 children with alkaptonuria.
J Inherit Metab Dis
; 46(5): 916-930, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37395296
3.
Nutritional interventions for patients with alkaptonuria: A minireview.
Endocr Regul
; 57(1): 61-67, 2023 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36966367
4.
Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients.
Int J Mol Sci
; 24(13)2023 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37446173
5.
APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease.
Bratisl Lek Listy
; 124(5): 351-355, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36876364
6.
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
Inglês
| MEDLINE | ID: mdl-31600782
7.
"Lessons from Rare Forms of Osteoarthritis".
Calcif Tissue Int
; 109(3): 291-302, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34417863
8.
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
Inglês
| MEDLINE | ID: mdl-33057760
9.
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
Inglês
| MEDLINE | ID: mdl-33314212
10.
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
Inglês
| MEDLINE | ID: mdl-33452825
11.
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
Inglês
| MEDLINE | ID: mdl-31503358
12.
Nitisinone causes acquired tyrosinosis in alkaptonuria.
J Inherit Metab Dis
; 43(5): 1014-1023, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32083330
13.
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
Inglês
| MEDLINE | ID: mdl-31609457
14.
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
Inglês
| MEDLINE | ID: mdl-32219972
15.
A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria.
Clin Chem
; 65(4): 530-539, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30782595
16.
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
Inglês
| MEDLINE | ID: mdl-31282009
17.
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
Inglês
| MEDLINE | ID: mdl-26891864
18.
Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing.
Rheumatology (Oxford)
; 56(1): 156-164, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28028161
19.
Defining the Properties of an Array of -NH2-Modified Substrates for the Induction of a Mature Osteoblast/Osteocyte Phenotype from a Primary Human Osteoblast Population Using Controlled Nanotopography and Surface Chemistry.
Calcif Tissue Int
; 100(1): 95-106, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27796463
20.
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
Inglês
| MEDLINE | ID: mdl-25475116