| Title |
Ocular Biomarkers of Riboflavin Transporter Deficiency |
| Creator |
Sabrina Bulas, MS; Emma C. Bedoukian, MS, LCGC; Erin C. O'Neil, MD; Ian D. Krantz, MD; Sabrina W. Yum, MD; Grant T. Liu, MD; Tomas S. Aleman, MD |
| Affiliation |
Division of Ophthalmology (SB, ECB, ECO, GTL, TSA), The Roberts Individualized Medical Genetics Center (ECB, IDK), Division of Genetics (IDK), Division of Neurology (SWY), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; and Department of Ophthalmology (ECO, TSA), Center for Advanced Retinal and Ocular Therapeutics, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania |
| Abstract |
To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 (SLC52A2-RTD). |
| Subject |
Riboflavin; RTD; SLC52A2 |
| Date |
2023-03 |
| Date Digital |
2023-03 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Publication Type |
Journal Article |
| Source |
Journal of Neuro-Ophthalmology, March 2023, Volume 43, Issue 1 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| ARK |
ark:/87278/s6nm7ark |
| Setname |
ehsl_novel_jno |
| ID |
2460107 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6nm7ark |
