Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

• Egile Nagusiak: Nur Arslan (Egilea), Mahmut Coker (Egilea), Gulden Fatma Gokcay (Egilea), Ertugrul Kiykim (Egilea), Halise Neslihan Onenli Mungan (Egilea), Fatih Ezgu (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

This review by a panel of pediatric metabolic disease specialists aimed to provide a practical and implementable guidance document to assist clinicians in best clinical practice in terms of recognition, diagnosis and management of patients with acid sphingomyelinase deficiency (ASMD). The participat...