Erythrocyte 3‐O‐methyl‐D‐glucose uptake assay for diagnosis of glucose‐transporter‐protein syndrome

Glucose transport into the brain is mediated by a facilitative glucose‐transporter protein, GLUT‐1. A GLUT‐1 defect results in the Glucose‐Transporter‐Protein Syndrome (GTPS), characterized by infantile epilepsy, developmental delay, and acquired microcephaly. The diagnosis is currently based on cli...

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Bibliographische Detailangaben
Veröffentlicht in:J Clin Lab Anal
Hauptverfasser: Klepper, Jörg, Garcia‐Alvarez, Marcela, O'Driscoll, Kevin R., Parides, Michael K., Wang, Dong, Ho, Yuan Yuan, De Vivo, Darryl C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley & Sons, Inc. 1999
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6807861/
https://ncbi.nlm.nih.gov/pubmed/10323476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/(SICI)1098-2825(1999)13:3<116::AID-JCLA5>3.0.CO;2-C
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