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MRI findings of hypomyelination in adenylosuccinate lyase deficiency
Adenylosuccinate lyase deficiency is a rare genetic disorder with few reported cases in the United States. Magnetic resonance imaging findings in the brain include hypomyelination and low generalized parenchymal volume. Presented here is a case in a 3-month-old male who presented with hypotonia and...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260459/ https://www.ncbi.nlm.nih.gov/pubmed/30510607 http://dx.doi.org/10.1016/j.radcr.2018.11.001 |