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GLUT1 deficiency and other glucose transporter diseases.
Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC. Pascual JM, et al. Among authors: wang d. Eur J Endocrinol. 2004 May;150(5):627-33. doi: 10.1530/eje.0.1500627. Eur J Endocrinol. 2004. PMID: 15132717 Review.
Glucose transporter protein syndromes.
De Vivo DC, Wang D, Pascual JM, Ho YY. De Vivo DC, et al. Among authors: wang d. Int Rev Neurobiol. 2002;51:259-88. doi: 10.1016/s0074-7742(02)51008-4. Int Rev Neurobiol. 2002. PMID: 12420362 Review. No abstract available.
Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.
Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Zuniga FA, Sun RP, Swaroop KM, Fischbarg J, De Vivo DC. Wang D, et al. J Biol Chem. 2003 Dec 5;278(49):49015-21. doi: 10.1074/jbc.M308765200. Epub 2003 Sep 16. J Biol Chem. 2003. PMID: 13129919 Free article.
We have previously reported on a patient with the Glut1 deficiency syndrome (Online Mendelian Inheritance in Man number 606777) carrying a heterozygous T310I missense mutation in the GLUT1 gene (Klepper, J., Wang, D., Fischbarg, J., Vera, J. C., Jarjour, I. T., O'Dr …
We have previously reported on a patient with the Glut1 deficiency syndrome (Online Mendelian Inheritance in Man number 606777) carrying a h …
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