Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss-Reference-Cited by-同舟云学术

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

Published:2015-12-11 Issue:13 Volume:56 Page:7875
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Bonafede Lucas¹,Ficicioglu Can H.²,Serrano Leona¹,Han Grace¹,Morgan Jessica I. W.¹,Mills Monte D.³,Forbes Brian J.³,Davidson Stefanie L.³,Binenbaum Gil³,Kaplan Paige B.²,Nichols Charles W.¹,Verloo Patrick⁴,Leroy Bart P.⁵,Maguire Albert M.⁶,Aleman Tomas S.⁶

Affiliation:

1. Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States

2. Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States

3. Division of Ophthalmology, The Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States

4. Department of Pediatrics, Ghent University and Ghent University Hospital, Ghent, Belgium

5. Division of Ophthalmology, The Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States 5Department of Ophthalmology, Ghent University and Gh

6. Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States 3Division of Ophthalmology, The Children's Hospital of

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect;Journal of Inherited Metabolic Disease;2024-08-17

2. Methylation-associated pathways in Macular Telangiectasia Type 2 and ophthalmologic findings in patients with genetic methylation disorders;Retina;2024-01-23

3. Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review;Orphanet Journal of Rare Diseases;2024-01-20

4. Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?;Molecular Genetics and Metabolism;2023-11

5. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis;Cell Reports Medicine;2022-07