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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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| Publicado no: | J Clin Lab Anal |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
1999
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| Assuntos: | |
| Acesso em linha: | 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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