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Shortcast: Normal transferrin glycosylation does not rule out severe ALG1 deficiency

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Manage episode 426078865 series 3001064
Indhold leveret af JIMD Podcasts and Journal of Inherited Metabolic Disease. Alt podcastindhold inklusive episoder, grafik og podcastbeskrivelser uploades og leveres direkte af JIMD Podcasts and Journal of Inherited Metabolic Disease eller deres podcastplatformspartner. Hvis du mener, at nogen bruger dit ophavsretligt beskyttede værk uden din tilladelse, kan du følge processen beskrevet her https://da.player.fm/legal.
In the latest shortcast, Inez Bosnyak describes a case of ALG1-CDG presenting without an abnormal isoelectric focusing pattern. Normal transferrin glycosylation does not rule out severe ALG1 deficiency Inez Bosnyak, et al https://doi.org/10.1002/jmd2.12415
  continue reading

171 episoder

Artwork
iconDel
 
Manage episode 426078865 series 3001064
Indhold leveret af JIMD Podcasts and Journal of Inherited Metabolic Disease. Alt podcastindhold inklusive episoder, grafik og podcastbeskrivelser uploades og leveres direkte af JIMD Podcasts and Journal of Inherited Metabolic Disease eller deres podcastplatformspartner. Hvis du mener, at nogen bruger dit ophavsretligt beskyttede værk uden din tilladelse, kan du følge processen beskrevet her https://da.player.fm/legal.
In the latest shortcast, Inez Bosnyak describes a case of ALG1-CDG presenting without an abnormal isoelectric focusing pattern. Normal transferrin glycosylation does not rule out severe ALG1 deficiency Inez Bosnyak, et al https://doi.org/10.1002/jmd2.12415
  continue reading

171 episoder

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