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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Bibliographic Details
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
Series:The Turkish Journal of Pediatrics
Online Access:https://turkjpediatr.org/article/view/2365
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