Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review-Reference-Cited by-同舟云学术

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review

Published:2021-10-15 Issue: Volume: Page:
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Matmat Karim,Guéant-Rodriguez Rosa-Maria^ORCID,Oussalah Abderrahim,Wiedemann-Fodé Arnaud,Dionisi-Vici Carlo,Coelho David,Guéant Jean-Louis,Conart Jean-Baptiste

Funder

ANR

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-021-02350-8.pdf

Reference90 articles.

1. Springer;A Abu-El-Haija,2018

2. Springer;RC Ahrens-Nicklas,2015

3. Aleman TS, Cideciyan AV, Sumaroka A et al (2007) Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol vis Sci 48:4759. https://doi.org/10.1167/iovs.07-0453

4. Aleman TS, Soumittra N, Cideciyan AV et al (2009) CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol vis Sci 50:5944. https://doi.org/10.1167/iovs.09-3982

5. Aleman TS, Brodie F, Garvin C et al (2015) Retinal structure in cobalamin C disease: mechanistic and therapeutic implications. Ophthalmic Genet 36:339–348. https://doi.org/10.3109/13816810.2014.885059

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