Detalles de la búsqueda
1.
Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients.
Int J Mol Sci
; 24(13)2023 Jul 01.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31600782
3.
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.
J Inherit Metab Dis
; 43(2): 259-268, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31503358
4.
Nitisinone causes acquired tyrosinosis in alkaptonuria.
J Inherit Metab Dis
; 43(5): 1014-1023, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32083330
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31609457
6.
Evaluation of the 25-hydroxy vitamin D assay on a fully automated liquid chromatography mass spectrometry system, the Thermo Scientific Cascadion SM Clinical Analyzer with the Cascadion 25-hydroxy vitamin D assay in a routine clinical laboratory.
Clin Chem Lab Med
; 58(6): 1010-1017, 2020 Jun 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-31851610
7.
A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria.
Clin Chem
; 65(4): 530-539, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30782595
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25475116
9.
Vitamin D assays: past and present debates, difficulties, and developments.
Calcif Tissue Int
; 92(2): 118-27, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23314742
10.
Increased prevalence of Parkinson's disease in alkaptonuria.
JIMD Rep
; 64(4): 282-292, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37404676
11.
Method development and validation for analysis of phenylalanine, 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid in serum and urine.
JIMD Rep
; 63(4): 341-350, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35822095
12.
Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria.
Metabolites
; 12(6)2022 May 25.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35685462
17.
Vitamin D, vitamin D-binding protein, free vitamin D and COVID-19 mortality in hospitalized patients.
Am J Clin Nutr
; 115(5): 1367-1377, 2022 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35102371
18.
Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria.
Metabolites
; 12(10)2022 Sep 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36295829
19.
Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects.
Clin Chem Lab Med
; 53(3): e81-3, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25252754
20.
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.
JIMD Rep
; 55(1): 75-87, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32904992