Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

BACKGROUND: Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with si...

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Detalhes bibliográficos
Publicado no:BMC Neurol
Main Authors: Seidahmed, Mohammed Zain, Salih, Mustafa A., Abdulbasit, Omer B., Samadi, Abdulmohsen, Al Hussien, Khalid, Miqdad, Abeer M., Biary, Maha S., Alazami, Anas M., Alorainy, Ibrahim A., Kabiraj, Mohammad M., Shaheen, Ranad, Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4947274/
https://ncbi.nlm.nih.gov/pubmed/27422383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0633-0
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