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pro vyhledávání: '"Shatha Al Rasheed"'
Autor:
Abdulrhman A. Alqahtani, Hussam Assiri, Hesham Alshaalan, Shatha Al Rasheed, Daniel Trujillano, Arndt Rolfs, Majid Alfadhel, Wafaa Eyaid, Muhammad Talal Alrifai, Ali Al Othaim, Manal Alaamery
Publikováno v:
JIMD Reports ISBN: 9783662474525
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 at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42e7366487fcf18c2525959405b275f0
https://doi.org/10.1007/8904_2014_405
https://doi.org/10.1007/8904_2014_405
