Expanding the phenotypic and genotypic spectrum of patients with <i>HGSNAT</i>-related retinopathy-Reference-Cited by-同舟云学术

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy

Published:2023-08-17 Issue: Volume: Page:1-8
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

da Palma Mariana Matioli¹²³⁴^ORCID,Marra Molly¹,Igelman Austin D.¹^ORCID,Ku Cristy A.¹⁵,Burr Amanda¹,Andersen Katherine¹,Everett Lesley A.¹^ORCID,Porto Fernanda B. O.⁶^ORCID,Sallum Juliana Maria Ferraz²³^ORCID,Yang Paul¹,Pennesi Mark E.¹

Affiliation:

1. Department of Ophthalmology, Casey Eye Institute at Oregon Health & Science University (OHSU), Portland, Oregon, USA

2. Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo Escola Paulista de Medicina (UNIFESP), São Paulo, Brazil

3. Instituto de Genética Ocular, São Paulo, Brazil

4. Department of Surgery & Hospital Clinic of Barcelona, School of Medicine, Universitat de Barcelona, Barcelona, Spain

5. Department of Ophthalmology & Vision Science, University of California Davis, Sacramento, California, USA

6. INRET Clínica e Centro de Pesquisa, Belo Horizonte, Brazil

Funder

Foundation Fighting Blindness Career Development

National Institutes of Health

Research to Prevent Blindness

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2245035

Reference41 articles.

1. Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

2. Sanfilippo syndrome: Overall review

3. Lysosomal enzymes in ocular tissues and diseases

4. Ophthalmological Findings in Mucopolysaccharidoses

5. The ocular features of the mucopolysaccharidoses

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