Diagnosis and Supportive Management of Fucosidosis: A Case Report.
Cureus
; 11(11): e6139, 2019 Nov 12.
Article
em En
| MEDLINE
| ID: mdl-31886074
ABSTRACT
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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Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article