Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

• Główni autorzy: Patryk Lipiński (Autor), Elżbieta Ciara (Autor), Dorota Jurkiewicz (Autor), Maciej Pronicki (Autor), Elżbieta Jurkiewicz (Autor), Anna Bogdańska (Autor), Rafał Płoski (Autor), Irena Jankowska (Autor)
• Format: Książka
• Wydane: Frontiers Media S.A., 2022-12-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Adenosine kinase (ADK) deficiency is a rare inborn error of methionine and adenosine metabolism. So far, a total of 27 patients with ADK deficiency have been reported. Here, we describe the first Polish patient diagnosed with ADK deficiency, aiming to highlight the clinical presentation of disease,...