Detalhe da pesquisa
1.
Post-Transcriptional Regulatory Crosstalk between MicroRNAs and Canonical TGF-ß/BMP Signalling Cascades on Osteoblast Lineage: A Comprehensive Review.
Int J Mol Sci
; 24(7)2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047394
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.
Nitisinone causes acquired tyrosinosis in alkaptonuria.
J Inherit Metab Dis
; 43(5): 1014-1023, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083330
4.
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
5.
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
6.
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
7.
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
8.
The Regulatory Role of MicroRNAs in Breast Cancer.
Int J Mol Sci
; 20(19)2019 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31590453
9.
Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report.
BMC Neurol
; 17(1): 153, 2017 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28789629
10.
Alkaptonuria - Past, present and future.
Adv Clin Chem
; 114: 47-81, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37268334
11.
Increased prevalence of Parkinson's disease in alkaptonuria.
JIMD Rep
; 64(4): 282-292, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37404676
12.
Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria.
Metabolites
; 12(6)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35736410
13.
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
14.
Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment.
Metabolites
; 12(8)2022 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36005644
15.
Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria.
Metabolites
; 12(10)2022 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36295821
16.
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism.
Genes Dis
; 9(4): 1129-1142, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35685462
17.
Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria.
Metabolites
; 12(10)2022 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36295829
18.
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
19.
Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC-QTOF-MS.
JIMD Rep
; 48(1): 67-74, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31392115