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Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation

Anders Helander1, Tommy Stödberg, Jaak Jaeken

  • 1Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden; Karolinska University Laboratory, Stockholm, Sweden.

Molecular Genetics and Metabolism
|July 30, 2013
PubMed

Keywords:
Carbohydrate-deficient transferrinCongenital disorder of glycosylationDOLK-CDGDolichol kinaseTransferrin glycosylation

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