Literature DB >> 26280757

Progress in Alkaptonuria--are we near to an effective therapy?

L R Ranganath1, O G Timmis, J A Gallagher.   

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Year:  2015        PMID： 26280757     DOI： 10.1007/s10545-015-9888-7

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


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  19 in total

1.  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

2.  Compression of the cervical cord due to alcaptonuric arthropathy of the atlanto-axial joint. A case report.

Authors:  N Kusakabe; N Tsuzuki; M Sonada
Journal:  J Bone Joint Surg Am       Date:  1995-02       Impact factor: 5.284

3.  Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice.

Authors:  Craig M Keenan; Andrew J Preston; Hazel Sutherland; Peter J Wilson; Eftychia E Psarelli; Trevor F Cox; Lakshminarayan R Ranganath; Jonathan C Jarvis; James A Gallagher
Journal:  JIMD Rep       Date:  2015-05-05

4.  The molecular basis of alkaptonuria.

Authors:  J M Fernández-Cañón; B Granadino; D Beltrán-Valero de Bernabé; M Renedo; E Fernández-Ruiz; M A Peñalva; S Rodríguez de Córdoba
Journal:  Nat Genet       Date:  1996-09       Impact factor: 38.330

Review 5.  Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

Authors:  Jean-Baptiste Arnoux; Kim-Hanh Le Quan Sang; Anais Brassier; Coraline Grisel; Aude Servais; Julien Wippf; Sandrine Dubois; Nicolas Sireau; Chantal Job-Deslandre; Lakshminarayan Ranganath; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2015-04-10       Impact factor: 4.982

6.  The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis.

Authors:  N B Roberts; S A Curtis; A M Milan; L R Ranganath
Journal:  JIMD Rep       Date:  2015-06-21

7.  Thoracic myelopathy with alkaptonuria.

Authors:  Koji Akeda; Yuichi Kasai; Eiji Kawakita; Yoshihiro Matsumura; Toshibumi Kono; Tetsuya Murata; Atsumasa Uchida
Journal:  Spine (Phila Pa 1976)       Date:  2008-01-15       Impact factor: 3.468

Review 8.  [Parkinson disease and alkaptonuria: fortuitous association or striatonigral ochronosis?].

Authors:  R Aquaron; G Fayet; C Barthet; S Désiré; F Viallet
Journal:  Rev Neurol (Paris)       Date:  1995-01       Impact factor: 2.607

9.  Natural history of alkaptonuria.

Authors:  Chanika Phornphutkul; Wendy J Introne; Monique B Perry; Isa Bernardini; Mark D Murphey; Diana L Fitzpatrick; Paul D Anderson; Marjan Huizing; Yair Anikster; Lynn H Gerber; William A Gahl
Journal:  N Engl J Med       Date:  2002-12-26       Impact factor: 91.245

10.  Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.

Authors:  Giulia Bernardini; Marcella Laschi; Michela Geminiani; Daniela Braconi; Elisa Vannuccini; Pietro Lupetti; Fabrizio Manetti; Lia Millucci; Annalisa Santucci
Journal:  J Inherit Metab Dis       Date:  2015-03-12       Impact factor: 4.982
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  2 in total

1.  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

2.  A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.

Authors:  Berardino Porfirio; Roberta Sestini; Greta Gorelli; Miriam Cordovana; Alessandro Mannoni; Jeanette L Usher; Wendy J Introne; William A Gahl; Thierry Vilboux
Journal:  JIMD Rep       Date:  2016-03-10
  2 in total

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