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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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| Publicat a: | JIMD Rep |
|---|---|
| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2015
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| Matèries: | |
| Accés en línia: | 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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