Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
作者信息
Kellom Elizabeth R, Wolf Barry, Rice Gregory M, Stepien Kimberly E
机构信息
Medical Genetics (ERK), Waisman Center, University of Wisconsin, Madison, Wisconsin; Department of Ophthalmology and Visual Sciences (ERK, KES), University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin; Genetics, Birth Defects & Metabolism (BW), Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, Chicago, Illinois; and Department of Pediatrics (GMR), University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
出版信息
J Neuroophthalmol. 2021 Mar 1;41(1):e27-e30. doi: 10.1097/WNO.0000000000000933.
PMID:32235217
Abstract
摘要
Zotero 插件