An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
نویسندگان
چکیده
منابع مشابه
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 the SallaFIN (p.R39C) mutation gene. The study involved neurological examination, neuropsychologic...
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ژورنال
عنوان ژورنال: Case Reports in Neurological Medicine
سال: 2012
ISSN: 2090-6668,2090-6676
DOI: 10.1155/2012/615721