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Case report: Diagnosis of a patient with Sifrim–Hitz–Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency

BACKGROUND: It 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 PRESENTATION: In this case report, we present a un...

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Detalles Bibliográficos
Autores principales: Zeka, Naim, Zeka, Eris, Zhubi, Esra, Hoxha, Ilir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10507246/
https://www.ncbi.nlm.nih.gov/pubmed/37732012
http://dx.doi.org/10.3389/fped.2023.1230056