Literature DB >> 6132360

Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement.

O Giardini, A Cantani, N G Kennaway, P D'Eufemia.   

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Year:  1983        PMID: 6132360     DOI: 10.1203/00006450-198301000-00005

Source DB:  PubMed          Journal:  Pediatr Res        ISSN: 0031-3998            Impact factor:   3.756


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  13 in total

1.  Autoimmune thyroiditis in a case of tyrosinaemia type III.

Authors:  P D'Eufemia; O Giardini; A Cantani; F Martino; R Finocchiaro
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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.  Immunological abnormalities in a patient with tyrosinaemia type III.

Authors:  P D D'Eufemia; R Finocchiaro; M Celli; L Viozzi; O Giardini
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Benign tyrosinaemia: an 18-year follow-up.

Authors:  G Stoppoloni; R Santinelli; F Prisco; G Canino; D Iafusco; F Di Palma
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Putative genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase in mice: a murine model for hereditary tyrosinaemia type III.

Authors:  F Endo; H Katoh; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

6.  A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia.

Authors:  F Endo; H Katoh; S Yamamoto; I Matsuda
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

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

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

Review 8.  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

9.  Therapeutic trials in the murine model of hereditary tyrosinaemia type I: a progress report.

Authors:  M Grompe; K Overturf; M al-Dhalimy; M Finegold
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

Review 10.  Hepatorenal tyrosinemia.

Authors:  Teruo Kitagawa
Journal:  Proc Jpn Acad Ser B Phys Biol Sci       Date:  2012       Impact factor: 3.493

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