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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.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33057760
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.
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.
Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.
Genes (Basel)
; 14(3)2023 03 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36980965
6.
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
7.
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
8.
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation.
JIMD Rep
; 58(1): 52-60, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33728247
9.
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
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