Compound heterozygous TRMU gene mutations in an infant with transient cholestasis and hyperlactatemia

• Glavni autori: Barbara Parma (Autor), Serena Motta (Autor), Erika S. Apuril Velgara (Autor), Angelo Selicorni (Autor), Lisa Licini (Autor), Maurizio Cheli (Autor), Lorenzo D'Antiga (Autor), Maria Iascone (Autor), Emanuele Nicastro (Autor), Serena Gasperini (Autor)
• Format: Knjiga
• Izdano: Hygeia Press di Corridori Marinella, 2024-02-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

The authors present an atypical case of an infant with unremarkable familiar, birth, and neonatal history who developed a mild/benign form of transient cholestasis. At admission, second- and third-level assessments were conducted, mitochondrial respiratory chain disorders were ex­cluded. The patient...