Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and...
Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases
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Publisher
London: BioMed Central Ltd
Journal title
Language
English
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Publisher
London: BioMed Central Ltd
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Scope and Contents
Contents
Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pictures, intelligence, life achievements, and quality of life in adulthood. The clinical picture in adults was characterized by paroxysmal exerc...
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Full title
Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases
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TN_cdi_doaj_primary_oai_doaj_org_article_61430e110c674fdc94c08119135ace0a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_61430e110c674fdc94c08119135ace0a
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-022-02513-4
