Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female-Reference-Cited by-同舟云学术

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female

Published:2020-09 Issue: Volume:24 Page:100615
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Barillari Maria Rosaria,Karali Marianthi,Di Iorio Valentina,Contaldo Maria,Piccolo Vincenzo,Esposito Maria,Costa Giuseppe,Argenziano Giuseppe,Serpico Rosario,Carotenuto Marco,Cappuccio Gerarda,Banfi Sandro,Melillo Paolo,Simonelli Francesca

Funder

Italian Fondazione Roma

Ministero dell'Istruzione, dell'Università e della Ricerca

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference35 articles.

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5. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines;Braverman;Mol. Genet. Metab.,2016

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1. Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder;Ophthalmic Genetics;2024-04-25

2. A Case Study Through an Audiological Perspective on a Pediatric Patient Diagnosed with Zellweger Syndrome;Indian Journal of Otolaryngology and Head & Neck Surgery;2023-02-10

3. Uncombable hair in a case of Zellweger syndrome – A new association;Indian Dermatology Online Journal;2023

4. Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss;Cells;2022-12-09

5. Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency;International Journal of Molecular Sciences;2022-10-15