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Determination of Glucan Chain Length Distribution of Glycogen Using the Fluorophore-Assisted Carbohydrate Electrophoresis FACE Method
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Further Delineation of the ALG9-CDG Phenotype

Sarah AlSubhi1, Amal AlHashem2, Anas AlAzami3

  • 1Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

JIMD Reports
|October 11, 2015
PubMed

Keywords:
ALG9-CDGCongenital disorders of glycosylationEpilepsyHydrops fetalisSkeletal dysplasiaWhole exome sequencing

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