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Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss
Author(s) -
Lucas Bonafede,
Can Fıçıcıoğlu,
Leona Serrano,
Grace Han,
Jessica I. W. Morgan,
Monte D. Mills,
Brian J. Forbes,
Stefanie L. Davidson,
Gil Binenbaum,
Paige Kaplan,
Charles W. Nichols,
Patrick Verloo,
Bart P. Leroy,
Albert M. Maguire,
Tomas S. Alemán
Publication year - 2015
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.15-17857
Subject(s) - outer nuclear layer , ophthalmology , retina , medicine , maculopathy , ganglion cell layer , electroretinography , retinal , retinitis pigmentosa , cobalamin , pathology , retinopathy , biology , endocrinology , vitamin b12 , neuroscience , diabetes mellitus
To describe in detail the retinal structure and function of a group of patients with cobalamin C (cblC) disease.

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