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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...
Autores principales: | Kaur, Arpanjeet, Dhaliwal, Arshdeep S, Raynes, Hillary, Naidich, Thomas P, Kaufman, David M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2019
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Materias: | |
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 |
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