Literature DB >> 9718357

NTBC and alkaptonuria.

Y Anikster, W L Nyhan, W A Gahl.   

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Year:  1998        PMID： 9718357      PMCID： PMC1377415          DOI： 10.1086/302027

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  14 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.  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

3.  Alkaptonuria: leading to the treasure in exceptions.

Authors:  Timothy M Cox
Journal:  JIMD Rep       Date:  2011-12-06

4.  An update on molecular genetics of Alkaptonuria (AKU).

Authors:  Andrea Zatkova
Journal:  J Inherit Metab Dis       Date:  2011-07-01       Impact factor: 4.982

Review 5.  Garrod's foresight; our hindsight.

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

6.  Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

Authors:  U Felbor; Y Mutsch; F Grehn; C R Müller; W Kress
Journal:  Br J Ophthalmol       Date:  1999-06       Impact factor: 4.638

7.  Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria.

Authors:  Birgitta Olsson; Trevor F Cox; Eftychia E Psarelli; Johan Szamosi; Andrew T Hughes; Anna M Milan; Anthony K Hall; Jozef Rovensky; Lakshminarayan R Ranganath
Journal:  JIMD Rep       Date:  2015-03-13

8.  Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Authors:  Thierry Vilboux; Michael Kayser; Wendy Introne; Pim Suwannarat; Isa Bernardini; Roxanne Fischer; Kevin O'Brien; Robert Kleta; Marjan Huizing; William A Gahl
Journal:  Hum Mutat       Date:  2009-12       Impact factor: 4.878

9.  Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion.

Authors:  Sudhesna Mohapatra; Teresa Biswas; Saswati Das; Alpana Saxena
Journal:  Indian J Clin Biochem       Date:  2013-05-25

Review 10.  On the ocular findings in ochronosis: a systematic review of literature.

Authors:  Moritz Lindner; Thomas Bertelmann
Journal:  BMC Ophthalmol       Date:  2014-01-30       Impact factor: 2.209
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