Salla disease in Turkish children: severe and conventional type
Sialic acid storage disorder, known as Salla disease, is a rare autosomal recessive lysosomal disorder produced by a defect of a proton-driven carrier that is responsible for the efflux of sialic acid from the lysosomal compartment. We report two patients with Salla disease: a two-year-old gi...
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| Main Authors: | Mahmut Coker, Sema Kalkan-Uçar, Omer Kitiş, Hakan Uçar, Damla Gökşen-Simşek, Sükran Darcan, Sarenur Gökben |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2009-12-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2365 |
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