Literature DB >> 27518768

SSIEM 2016 Annual Symposium - Abstracts : Rome, Italy, September 2016.

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Abstract

Year:  2016        PMID： 27518768     DOI： 10.1007/s10545-016-9969-2

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


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  2 in total

1.  Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

Authors:  Victoria Fettelschoss; Patricie Burda; Corinne Sagné; David Coelho; Corinne De Laet; Seraina Lutz; Terttu Suormala; Brian Fowler; Nicolas Pietrancosta; Bruno Gasnier; Beat Bornhauser; D Sean Froese; Matthias R Baumgartner
Journal:  J Biol Chem       Date:  2017-06-01       Impact factor: 5.157

2.  Longitudinal study on ocular manifestations in a cohort of patients with Fabry disease.

Authors:  Langis Michaud
Journal:  PLoS One       Date:  2019-06-27       Impact factor: 3.240
  2 in total

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