Pompe disease, a late-onset - misleading form of diagnosis in a patient with persistent hepatic cytolysis syndrome

• Main Authors: Smaranda Diaconescu (Author), Cristina Rusu (Author), Laura Bozomitu (Author), Alina Costina Luca (Author), Ecaterina Vlad (Author), Oana-Larisa C (Author), Ramona Babici (Author), Silvia Strat (Author), Lorenza Donea (Author)
• Format: Book
• Published: Amaltea Medical Publishing House, 2020-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The article discusses a clinical case of late-onset Pompe disease in a 15-year and 6-month-old adolescent hospitalised in a Paediatric Gastroenterology department to investigate persistent liver cytolysis, without response to hepatoprotective therapy. After excluding viral, autoimmune, metabolic and...