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Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

author

Kim-Hanh Le Quan Sang

Aude Servais

1975 -

published in: Journal of Inherited Metabolic Disease

date of publication: 2015-04-10

Cites articles 40

Date

Title

Authors

2015-02-10

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria
2014-08-01

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Sabine Scholl-Bürgi, Hélène Ogier de Baulny, Michaela Brunner-Krainz, Matthias Gautschi, Carlo Dionisi-Vici
2014-01-01

Antioxidant supplements and mortality.

Dimitrinka Nikolova, Christian Gluud
2014-12-04

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

Anna Milan, Eftychia E Psarelli, Kim-Hanh Le Quan Sang, Federica Genovese, Daniela Braconi, Annalisa Santucci, Andrea Zatkova
2013-01-11

Recommendations for the management of tyrosinaemia type 1

Carlo Dionisi-Vici, Guillem Pintos-Morell
2013-03-19

Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone

Adam M Taylor, Dominic P Williams
2013-05-23

Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria

Adriano Spreafico, Michela Geminiani, Daniela Braconi, Annalisa Santucci
2012-09-01

Biochemical and proteomic characterization of alkaptonuric chondrocytes

Daniela Braconi, Tommaso Serchi, Adriano Spreafico, Annalisa Santucci
2012-07-28

Alkaptonuria is a novel human secondary amyloidogenic disease

Adriano Spreafico, Daniela Braconi, Eugenio Paccagnini, Pietro Lupetti, Annalisa Santucci
2012-06-09

Glutaric acidemia type 1: outcomes before and after expanded newborn screening
2011-08-27

Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis
2011-08

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria
2011-11-09

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.
2011-07-09

A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems

Trevor F Cox
2011-07-11

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1

Etienne Sokal, Bernard Dan
2010-11-01

Proteomic and redox-proteomic evaluation of homogentisic acid and ascorbic acid effects on human articular chondrocytes,Proteomic and redox‐proteomic evaluation of homogentisic acid and ascorbic acid effects on human articular chondrocytes

Daniela Braconi, Adam M Taylor, Adriano Spreafico, Annalisa Santucci
2010-09

Multiple-dose pharmacokinetics and pharmacodynamics of N-acetylcysteine in patients with end-stage renal disease

Thomas D Nolin, Jonathan Himmelfarb
2010-11-10

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.
2010-07-02

Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis

Annalisa Santucci, Daniela Braconi, Adriano Spreafico
2010-10-15

Development of an in vitro model to investigate joint ochronosis in alkaptonuria

Adam M Taylor, Annalisa Santucci
2008-10-29

Quality of life in noncompliant adults with phenylketonuria after resumption of the diet

Wojciech Cichy, Miroslaw Bik-Multanowski
2007-06-25

Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis
2005-06-01

Use of nitisinone in patients with alkaptonuria

Lynn N Gerber
2004-12-23

Modulation of light-induced skin tumors by N-acetylcysteine and/or ascorbic acid in hairless mice
2002-08-01

Corneal opacities associated with NTBC treatment

Jeffrey Teckman
2002-09-01

Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation
2002-12-26

Natural history of alkaptonuria

Marjan Huizing, Lynn N Gerber
2001-12-01

Outcome of tyrosinaemia type III.
2000-04-01

Tissue distribution of 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) and its effect on enzymes involved in tyrosine catabolism in the mouse
1998-12-01

The success of dietary protein restriction in alkaptonuria patients is age-dependent
1998-10-01

Effects of ascorbic acid and low-protein diet in alkaptonuria
1995-07

Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione and 2-(2-chloro-4-methanesulfonylbenzoyl)-cyclohexane-1,3-dione,Inhibition of 4-Hydroxyphenylpyruvate Dioxygenase by 2-(2-Nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione and 2-(2-Chloro-4-methanesulfonylbenzoyl)-cyclohexane-1,3-dione

Article - wd:Q38414587

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