Detalles de la búsqueda
1.
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
2.
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
3.
Nitisinone causes acquired tyrosinosis in alkaptonuria.
J Inherit Metab Dis
; 43(5): 1014-1023, 2020 09.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31609457
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma.
JIMD Rep
; 53(1): 45-60, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-32395409
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32822600
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31392115
18.
Evaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria.
Bioanalysis
; 10(23): 1919-1932, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30412682
19.
The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool.
Ann Clin Biochem
; 54(3): 323-330, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28081634
20.
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
Ann Clin Biochem
; 52(Pt 5): 597-605, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25628464