Literature DB >> 12872835

Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.

P Gissen1, M A Preece, H A Willshaw, P J McKiernan.   

Abstract

NTBC has revolutionized the management of tyrosinaemia type I, although animal experiments have shown that long-term administration may produce corneal opacities analogous to those in tyrosinaemia type II. We have assessed the prevalence of ocular side-effects in 11 tyrosinaemia type I patients on NTBC attending the Birmingham Children's Hospital. Despite high plasma tyrosine concentrations in some patients, they did not experience symptoms or signs of ocular toxicity.

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Year:  2003        PMID： 12872835     DOI： 10.1023/a:1024011110116

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

1.  Tyrosinemia type III: diagnosis and ten-year follow-up.

Authors:  R Cerone; E Holme; M C Schiaffino; U Caruso; L Maritano; C Romano
Journal:  Acta Paediatr       Date:  1997-09       Impact factor: 2.299

2.  Outcome of tyrosinaemia type III.

Authors:  C J Ellaway; E Holme; S Standing; M A Preece; A Green; E Ploechl; M Ugarte; F K Trefz; J V Leonard
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

3.  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.

Authors:  E A Lock; P Gaskin; M K Ellis; W McLean Provan; M Robinson; L L Smith
Journal:  Toxicology       Date:  2000-04-03       Impact factor: 4.221

4.  Tissue distribution of 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1-3-dione (NTBC): effect on enzymes involved in tyrosine catabolism and relevance to ocular toxicity in the rat.

Authors:  E A Lock; P Gaskin; M K Ellis; W M Provan; M Robinson; L L Smith; M P Prisbylla; L C Mutter
Journal:  Toxicol Appl Pharmacol       Date:  1996-12       Impact factor: 4.219

Review 5.  From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug.

Authors:  E A Lock; M K Ellis; P Gaskin; M Robinson; T R Auton; W M Provan; L L Smith; M P Prisbylla; L C Mutter; D L Lee
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

Review 6.  Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

Authors:  E Holme; S Lindstedt
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

7.  The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: a morphological ultrastructural study of the cornea and the conjunctiva.

Authors:  A Sammartino; R Cerbella; A Cecio; G De Crecchio; A Federico; A Fronterre
Journal:  Int Ophthalmol       Date:  1987-08       Impact factor: 2.031
  7 in total
  16 in total

1.  Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.

Authors:  Manuel Schiff; Pierre Broue; Brigitte Chabrol; Corinne De Laet; Dalila Habes; Karine Mention; Jacques Sarles; Anne Spraul; Vassili Valayannopoulos; Hélène Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  2011-12-14       Impact factor: 4.982

2.  Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.

Authors:  Ilya Gertsman; Bruce A Barshop; Jan Panyard-Davis; Jon A Gangoiti; William L Nyhan
Journal:  JIMD Rep       Date:  2015-02-10

3.  A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.

Authors:  Wendy J Introne; Monique B Perry; James Troendle; Ekaterini Tsilou; Michael A Kayser; Pim Suwannarat; Kevin E O'Brien; Joy Bryant; Vandana Sachdev; James C Reynolds; Elizabeth Moylan; Isa Bernardini; William A Gahl
Journal:  Mol Genet Metab       Date:  2011-05-06       Impact factor: 4.797

4.  Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.

Authors:  M Khedr; S Judd; M C Briggs; A T Hughes; A M Milan; R M K Stewart; E A Lock; J A Gallagher; L R Ranganath
Journal:  JIMD Rep       Date:  2017-09-24

5.  Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria.

Authors:  J B Mistry; D J Jackson; M Bukhari; A M Taylor
Journal:  Clin Rheumatol       Date:  2015-05-31       Impact factor: 2.980

6.  Nitisinone in the treatment of hereditary tyrosinaemia type 1.

Authors:  Patrick J McKiernan
Journal:  Drugs       Date:  2006       Impact factor: 9.546

7.  Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report.

Authors:  R M K Stewart; M C Briggs; J C Jarvis; J A Gallagher; L Ranganath
Journal:  JIMD Rep       Date:  2014-07-06

8.  Corneal depositions in tyrosinaemia type I during treatment with Nitisinone.

Authors:  Robert P L Wisse; Dienke Wittebol-Post; Gepke Visser; Allegonda van der Lelij
Journal:  BMJ Case Rep       Date:  2012-11-30

Review 9.  New management options for end-stage chronic liver disease and acute liver failure: potential for pediatric patients.

Authors:  Dominique Debray; Nadya Yousef; Philippe Durand
Journal:  Paediatr Drugs       Date:  2006       Impact factor: 3.022

Review 10.  Current strategies for the treatment of hereditary tyrosinemia type I.

Authors:  Merja Ashorn; Sari Pitkänen; Matti K Salo; Markku Heikinheimo
Journal:  Paediatr Drugs       Date:  2006       Impact factor: 3.022
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