An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation

Salla disease (SD) is a disorder caused by defective storage of free sialic acid and results from mutations in the SLC17A5 gene. Early developmental delay of motor functions, and later cognitive skills, is typical. We describe a developmental profile of an unusual homozygous patient, who harboured t...

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Detalles Bibliográficos
Autores principales: Paavola, Liisa E., Remes, Anne M., Sonninen, Pirkko H., Kiviniemi, Vesa V., Korhonen, Tapio T., Majamaa, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512220/
https://www.ncbi.nlm.nih.gov/pubmed/23227378
http://dx.doi.org/10.1155/2012/615721

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