scholarly article | Q13442814 |
P50 | author | Katherine A. High | Q41502889 |
Juliana M F Sallum | Q81446582 | ||
P2093 | author name string | Bart P Leroy | |
Daniel C Chung | |||
Christian P Hamel | |||
Emily Liu | |||
Birgit Lorenz | |||
Michael Larsen | |||
Emily Place | |||
Paul Yang | |||
Okan U Elci | |||
Mette Bertelsen | |||
Mark E Pennesi | |||
Knut Stieger | |||
Markus Preising | |||
Kathleen Z Reape | |||
Richard Weleber | |||
Eric Pierce | |||
Julie DiStefano-Pappas | |||
Sarah McCague | |||
Jennifer A Wellman | |||
Grace Schaefer | |||
P2860 | cites work | Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. | Q30765474 |
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation | Q37241257 | ||
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials | Q38659194 | ||
Resolving the clinical acuity categories "hand motion" and "counting fingers" using the Freiburg Visual Acuity Test (FrACT). | Q40051827 | ||
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. | Q40736925 | ||
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations | Q45163699 | ||
Novel mobility test to assess functional vision in patients with inherited retinal dystrophies | Q48143937 | ||
The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients | Q68081738 | ||
Vision in Leber congenital amaurosis | Q71098155 | ||
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations | Q74150962 | ||
Visual acuity measurements | Q79797879 | ||
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 58-70 | |
P577 | publication date | 2018-09-28 | |
P1433 | published in | American Journal of Ophthalmology | Q4744258 |
P1476 | title | The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene | |
P478 | volume | 199 |
Q89604802 | An Economic Evaluation of Voretigene Neparvovec for the Treatment of Biallelic RPE65-Mediated Inherited Retinal Dystrophies in the UK |
Q104076002 | Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy |
Q91986136 | Cost-effectiveness of Voretigene Neparvovec-rzyl vs Standard Care for RPE65-Mediated Inherited Retinal Disease |
Q90681476 | Development and Clinical Translation of Approved Gene Therapy Products for Genetic Disorders |
Q90152961 | Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision |
Q92258187 | Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy |
Q90258684 | [Statement of the German Society of Ophthalmology (DOG), the German Retina Society (RG) and the Professional Association of German Ophthalmologists (BVA) on the therapeutic use of voretigene neparvovec-rzyl (Luxturna™) in ophthalmology : Situation J |
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