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Phenylketonuria - genetic, clinical and therapeutic aspects

✍ Scribed by A Murariu,R Magopet,SO Salceanu,O Murariu,E Petrescu

Book ID
115024378
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
131 KB
Volume
6
Category
Article
ISSN
1753-6561

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## Abstract Impaired glucose transport across the blood‐brain barrier results in Glut‐1 deficiency syndrome (Glut‐1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. We studied 16 new Glut‐1 deficiency syndr