Literature DB >> 17998529

Sjögren-larsson syndrome and crystalline maculopathy associated with a novel mutation.

Erold Jean-François, Jessica Y Low, Christine R Gonzales, David Sarraf.   

Abstract

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Year:  2007        PMID： 17998529     DOI： 10.1001/archopht.125.11.1582

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  4 in total

1.  Optical coherence tomography aspect of crystalline macular dystrophy in Sjögren-Larsson syndrome.

Authors:  Salima Bhallil; Fouad Chraibi; Idriss Benatiya Andalloussi; Hicham Tahri
Journal:  Int Ophthalmol       Date:  2012-08-30       Impact factor: 2.031

2.  Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

Authors:  William B Rizzo
Journal:  Expert Opin Orphan Drugs       Date:  2016-03-10       Impact factor: 0.694

3.  A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

Authors:  Markus A Keller; Ulrich Zander; Julian E Fuchs; Christoph Kreutz; Katrin Watschinger; Thomas Mueller; Georg Golderer; Klaus R Liedl; Markus Ralser; Bernhard Kräutler; Ernst R Werner; Jose A Marquez
Journal:  Nat Commun       Date:  2014-07-22       Impact factor: 14.919

4.  Genotype and phenotype variability in Sjögren-Larsson syndrome.

Authors:  Maximilian Weustenfeld; Reiner Eidelpes; Matthias Schmuth; William B Rizzo; Johannes Zschocke; Markus A Keller
Journal:  Hum Mutat       Date:  2018-11-26       Impact factor: 4.878
  4 in total

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