Literature DB >> 21670350

Retinal dystrophy in 2 brothers with α-Mannosidosis.

Robert Jackson Courtney1, Mark E Pennesi.   

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Year:  2011        PMID： 21670350     DOI： 10.1001/archophthalmol.2011.134

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


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  3 in total

1.  Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.

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Journal:  Genet Med       Date:  2015-12-03       Impact factor: 8.822

2.  Defects in the retina of Niemann-pick type C 1 mutant mice.

Authors:  Xin Yan; Lucy Ma; Marina Hovakimyan; Jan Lukas; Andreas Wree; Marcus Frank; Rudolf Guthoff; Arndt Rolfs; Martin Witt; Jiankai Luo
Journal:  BMC Neurosci       Date:  2014-11-29       Impact factor: 3.288

3.  Retinal and optic nerve degeneration in α-mannosidosis.

Authors:  Juliane Matlach; Thea Zindel; Yasmina Amraoui; Laila Arash-Kaps; Julia B Hennermann; Susanne Pitz
Journal:  Orphanet J Rare Dis       Date:  2018-06-01       Impact factor: 4.123
  3 in total

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