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Siblings with fucosidosis

Fucosidosis is a rare lysosomal storage disorder due to deficiency of fucosidase enzyme, with around 100 cases reported worldwide. Here, we describe the clinical and imaging features in two siblings with fucosidosis. An 8-year-old girl presented with global developmental delay, followed by regressio...

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Detalles Bibliográficos
Autores principales:	Muthusamy, Karthik, Thomas, Maya Mary, George, Renu Elizabeth, Alexander, Mathew, Mani, Sunithi, Benjamin, Rohit N
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166842/ https://www.ncbi.nlm.nih.gov/pubmed/25250075 http://dx.doi.org/10.4103/1817-1745.139331

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