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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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
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author Kaur, Arpanjeet
Dhaliwal, Arshdeep S
Raynes, Hillary
Naidich, Thomas P
Kaufman, David M
author_facet Kaur, Arpanjeet
Dhaliwal, Arshdeep S
Raynes, Hillary
Naidich, Thomas P
Kaufman, David M
author_sort Kaur, Arpanjeet
collection PubMed
description 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 outcomes. In fact, early diagnosis and management of the symptoms with a multi-systemic supportive care approach can improve the quality of life and may also prolong the life of those patients diagnosed with fucosidosis.
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spelling pubmed-69077172019-12-29 Diagnosis and Supportive Management of Fucosidosis: A Case Report Kaur, Arpanjeet Dhaliwal, Arshdeep S Raynes, Hillary Naidich, Thomas P Kaufman, David M Cureus Genetics 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 outcomes. In fact, early diagnosis and management of the symptoms with a multi-systemic supportive care approach can improve the quality of life and may also prolong the life of those patients diagnosed with fucosidosis. Cureus 2019-11-12 /pmc/articles/PMC6907717/ /pubmed/31886074 http://dx.doi.org/10.7759/cureus.6139 Text en Copyright © 2019, Kaur et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Kaur, Arpanjeet
Dhaliwal, Arshdeep S
Raynes, Hillary
Naidich, Thomas P
Kaufman, David M
Diagnosis and Supportive Management of Fucosidosis: A Case Report
title Diagnosis and Supportive Management of Fucosidosis: A Case Report
title_full Diagnosis and Supportive Management of Fucosidosis: A Case Report
title_fullStr Diagnosis and Supportive Management of Fucosidosis: A Case Report
title_full_unstemmed Diagnosis and Supportive Management of Fucosidosis: A Case Report
title_short Diagnosis and Supportive Management of Fucosidosis: A Case Report
title_sort diagnosis and supportive management of fucosidosis: a case report
topic Genetics
url 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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