From the hypertransaminasemia symptoms to the recognition of late-onset Pompe disease in a 12-year-old boy

• Main Authors: Ewa Grzywna (Author), Jarosław Kwiecień (Author)
• Formato: Livro
• Publicado em: Termedia Publishing House, 2021-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

The paper presents the case of a 12-year-old boy hospitalised due to persistent hypertransaminasemia of unknown origin, in whom rare metabolic disease - Pompe disease, was finally diagnosed. We discuss the possible symptoms and the diagnostic criteria for Pompe disease, as well as modern genetic met...