Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 1 of 1 for “"GLUT 1 deficiency syndrome"”.
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EXPANSION OF CLINICAL PHENOTYPE AND USE OF KETOGENIC DIET IN RARE GENETIC CONDITIONS: GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME AND SCN8A-RELATED DISORDERS
… genetic disorders: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) and conditions associated with pathogenic variants in the SCN8A gene. The aim was to expand the understanding of the clinical phenotype and disease progression, as well as to evaluate the efficacy of the ketogenic diet …