Systematic study of ophthalmological findings in 10 patients with <i>PEX1</i> -mediated Zellweger spectrum disorder-Reference-Cited by-同舟云学术

Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder

Published:2024-04-25 Issue:4 Volume:45 Page:351-362
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Karuntu Jessica S.¹^ORCID,Klouwer Femke C. C.²^ORCID,Engelen Marc²^ORCID,Boon Camiel J. F.¹³^ORCID

Affiliation:

1. Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands

2. Department of Paediatric Neurology/Emma Children’s Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands

3. Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands

Funder

Stichting Steunfonds UitZicht

Algemene Nederlandse Vereniging

Voorkoming van Blindheid

Landelijke Stichting voor Blinden en Slechtzienden

Oogfonds

Stichting Retina Fonds

funds

research

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2330389

Reference47 articles.

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4. Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

5. Genetics and molecular basis of human peroxisome biogenesis disorders