Case report: Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency
BackgroundIt is generally recognized that genetic metabolic disorders can result in neurological symptoms such as seizures, developmental delay, and intellectual disability. Heterogeneous clinical presentations make the diagnosis challenging.Case presentationIn this case report, we present a unique...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-09-01T00:00:00Z.
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A1234.567 |
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