Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features include coarse facial features, growth retardation, recurrent upper respiratory infections, dysostosis multiplex, and angiokeratoma corporis diffusum. Fucosidosis is caused by mutations in the <i>FUCA1&l...

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Bibliographic Details
Main Authors: Karolina M. Stepien, Elżbieta Ciara, Aleksandra Jezela-Stanek
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Genes
Subjects:
fucosidosis
<i>FUCA1</i>
lysosomal storage disease
neurocognitive dysfunction
clinical outcome
genotype
Online Access:https://www.mdpi.com/2073-4425/11/11/1383

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https://www.mdpi.com/2073-4425/11/11/1383

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