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.
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
3.
Non randomized study on the potential of nitisinone to inhibit cytochrome P450 2C9, 2D6, 2E1 and the organic anion transporters OAT1 and OAT3 in healthy volunteers.
Eur J Clin Pharmacol
; 75(3): 313-320, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30443705
4.
Safety, Pharmacokinetics, and Efficacy of Palifermin in Children and Adolescents with Acute Leukemias Undergoing Myeloablative Therapy and Allogeneic Hematopoietic Stem Cell Transplantation: A Pediatric Blood and Marrow Transplant Consortium Trial.
Biol Blood Marrow Transplant
; 22(7): 1247-1256, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26968792
5.
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
6.
rhBSSL improves growth and LCPUFA absorption in preterm infants fed formula or pasteurized breast milk.
J Pediatr Gastroenterol Nutr
; 59(1): 61-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25222806
7.
Correction: Zatkova et al. Analysis of the Phenotype Differences in Siblings with Alkaptonuria. Metabolites 2022, 12, 990.
Metabolites
; 14(6)2024 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38921482
8.
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Metabolites
; 12(10)2022 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36295892
9.
Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria.
JIMD Rep
; 63(1): 41-49, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028270
10.
Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index.
JIMD Rep
; 63(4): 361-370, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822087
11.
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
12.
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
13.
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.
RMD Open
; 8(2)2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270742
14.
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
15.
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
16.
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Eur J Hum Genet
; 27(6): 888-902, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737480
17.
Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1.
JIMD Rep
; 38: 81-88, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28643275
18.
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
19.
Pharmacokinetic and pharmacodynamic interactions between palifermin and heparin.
J Clin Pharmacol
; 55(10): 1109-18, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25880826
20.
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria.
JIMD Rep
; 24: 21-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25772318