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...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Hindawi Publishing Corporation
2012
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512220/ |