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Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

Congenital disorders of glycosylation (CDG) are a constantly growing group of genetic defects of glycoprotein and glycolipid glycan synthesis. CDGs are usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hyp...

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Publicat a:JIMD Rep
Autors principals: Fiumara, Agata, Barone, Rita, Del Campo, Giuliana, Striano, Pasquale, Jaeken, Jaak
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867844/
https://ncbi.nlm.nih.gov/pubmed/26453362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_497
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