Diagnosis and Supportive Management of Fucosidosis: A Case Report

Fucosidosis is a lysosomal storage disease, resulting from a deficiency of the enzyme alpha-L-fucosidase. We present the case of an affected female with numerous manifestations, clinically and radiographically. In fucosidosis, advanced interventions are not always necessary to have rewarding outcome...

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Detalles Bibliográficos
Autores principales: Kaur, Arpanjeet, Dhaliwal, Arshdeep S, Raynes, Hillary, Naidich, Thomas P, Kaufman, David M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907717/
https://www.ncbi.nlm.nih.gov/pubmed/31886074
http://dx.doi.org/10.7759/cureus.6139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907717/
https://www.ncbi.nlm.nih.gov/pubmed/31886074
http://dx.doi.org/10.7759/cureus.6139

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