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...

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Опубликовано в: :Radiol Case Rep
Главные авторы: Kayfan, Samar, Yazdani, Rana M., Castillo, Samantha, Wong, Kevin, Miller, Jeffrey H., Pfeifer, Cory M.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2018
Предметы:
Neuroradiology
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6260459/
https://ncbi.nlm.nih.gov/pubmed/30510607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.radcr.2018.11.001
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