Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.

Ürey, Burcu Civelek; Ceylan, Ahmet Cevdet; Çavdarli, Büsranur; Çitak Kurt, Aysegül Nese; Köylü, Oya Kireker; Yürek, Burak; Kasapkara, Çigdem Seher

Ürey, Burcu Civelek; Ceylan, Ahmet Cevdet; Çavdarli, Büsranur; Çitak Kurt, Aysegül Nese; Köylü, Oya Kireker; Yürek, Burak; Kasapkara, Çigdem Seher.

Afiliación

Ürey BC; Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey.
Ceylan AC; Medical Genetic, Ankara Yildirim Beyazit University, Ankara, Turkey.
Çavdarli B; Medical Genetic, Ankara Yildirim Beyazit University, Ankara, Turkey.
Çitak Kurt AN; Pediatric Neurology, Ankara City Hospital, Ankara, Turkey.
Köylü OK; Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey.
Yürek B; Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey.
Kasapkara ÇS; Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey.

Mol Syndromol ; 14(2): 171-174, 2023 Apr.

Article en En | MEDLINE | ID: mdl-37064335

Palabras clave

Leigh syndrome phenotype; Metabolic diseases; Mitochondrial disease; Succinate dehydrogenase deficiency; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Mol Syndromol Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Suiza

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