Clinical Variability of GLUT1DS
Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial <em>SLC2A1</em> gene mutations (n=11) and those with sporadic mutations (n=11).
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , |
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| Μορφή: | Βιβλίο |
| Έκδοση: |
Pediatric Neurology Briefs Publishers,
2015-02-01T00:00:00Z.
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| Διαθέσιμο Online: | Connect to this object online. |
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| Περίληψη: | Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial <em>SLC2A1</em> gene mutations (n=11) and those with sporadic mutations (n=11). |
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| Περιγραφή τεκμηρίου: | 1043-3155 2166-6482 10.15844/pedneurbriefs-29-2-5 |