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Lafora disease: a case report
BACKGROUND: Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized by Lafora bodies in tissues such as b...
Autores principales: | Zeka, Naim, Zogaj, Leonore, Gerguri, Abdurrahim, Bejiqi, Ramush, Ratkoceri, Ragip, Maloku, Arlinda, Mustafa, Aferdita, Shahini, Labinot, Maxharaj, Jeton |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528140/ https://www.ncbi.nlm.nih.gov/pubmed/36192771 http://dx.doi.org/10.1186/s13256-022-03537-x |
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