Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

Background: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simpli...

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Bibliografske podrobnosti
izdano v:JIMD Rep
Main Authors: Alfadhel, Majid, Alrifai, Muhammad Talal, Trujillano, Daniel, Alshaalan, Hesham, Al Othaim, Ali, Al Rasheed, Shatha, Assiri, Hussam, Alqahtani, Abdulrhman A., Alaamery, Manal, Rolfs, Arndt, Eyaid, Wafaa
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2015
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4486270/
https://ncbi.nlm.nih.gov/pubmed/25663424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_405
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