A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.

Basan, Hacer; Azak, Emine; Çetin, Ibrahim Ilker; Kiliç, Esra; Bilginer Gürbüz, Berrak; Özbey, Sümeyra Zeynep; Kasapkara, Çigdem Seher

Basan, Hacer; Azak, Emine; Çetin, Ibrahim Ilker; Kiliç, Esra; Bilginer Gürbüz, Berrak; Özbey, Sümeyra Zeynep; Kasapkara, Çigdem Seher.

Afiliação

Basan H; Department of Pediatrics, Department of Pediatric Metabolic Diseases, Ankara City Hospital, Ankara, Turkey.
Azak E; Department of Pediatrics, Department of Pediatric Cardiology, Ankara City Hospital, Ankara, Turkey.
Çetin II; Department of Pediatrics, Department of Pediatric Cardiology, Ankara City Hospital, Ankara, Turkey.
Kiliç E; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.
Bilginer Gürbüz B; Department of Pediatrics, Department of Pediatric Metabolic Diseases, Ankara City Hospital, Ankara, Turkey.
Özbey SZ; Department of Pediatrics, Department of Pediatric Metabolic Diseases, Ankara City Hospital, Ankara, Turkey.
Kasapkara ÇS; Department of Pediatrics, Department of Pediatric Metabolic Diseases, Ankara City Hospital, Ankara, Turkey.

Mol Syndromol ; 15(2): 156-160, 2024 Mar.

Article em En | MEDLINE | ID: mdl-38585546

Palavras-chave

Cardiomyopathy; Hyperammonemia; Primary carnitine deficiency; SLC22A5 mutation

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Mol Syndromol Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Turquia