article_metadata: Naim Zeka Eris Zeka Esra Zhubi Ilir Hoxha
article_metadata: 10.3389/fped.2023.1230056
article_metadata: Front Pediatr
article_metadata: 2023 Sep 4:11:1230056.
article_metadata: sifrim–hitz–weiss syndrome developmental and epileptic encephalopathy genetic variants medium-chain acyl-coa dehydrogenase deficiency neurodevelopmental delay seizure
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37732012/
article_metadata: Case Reports
article_metadata: PMC10507246
article_metadata: 37732012
article_metadata: Case report: Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency
article_metadata: 2023