A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report

• Główni autorzy: Giulia Lucignani (Autor), Leonardo Vattermoli (Autor), Maria Camilla Rossi-Espagnet (Autor), Alessia Guarnera (Autor), Antonio Napolitano (Autor), Lorenzo Figà-Talamanca (Autor), Francesca Campi (Autor), Sara Ronci (Autor), Carlo Dionisi Vici (Autor), Diego Martinelli (Autor), Carlo Gandolfo (Autor), Daniela Longo (Autor)
• Format: Książka
• Wydane: MDPI AG, 2023-06-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging between 1 in 100,000 and 200,000 live births. The clinical presentation with seizures, lethargy and neurol...