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Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum
Aminoacylase 1 (ACY1) deficiency is a rare inborn error of metabolism presenting with heterogeneous neurological symptoms such as psychomotor delay, seizures, intellectual disability and it is characterized by increased urinary excretion of N-acetylated amino acids. We report on a new patient who pr...
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| Publicat a: | JIMD Rep |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4221304/ https://ncbi.nlm.nih.gov/pubmed/24997716 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_323 |
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