Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skil...

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Detalles Bibliográficos
Autores principales: Zubarioglu, Tanyel, Kiykim, Ertugrul, Zeybek, Cigdem Aktuglu, Cansever, Mehmet Serif, Benbir, Gulcin, Aydin, Ahmet, Yalcinkaya, Cengiz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683895/
https://www.ncbi.nlm.nih.gov/pubmed/26713028
http://dx.doi.org/10.4103/0972-2327.160090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683895/
https://www.ncbi.nlm.nih.gov/pubmed/26713028
http://dx.doi.org/10.4103/0972-2327.160090

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