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

• Main Authors: Nur Arslan (Author), Mahmut Coker (Author), Gulden Fatma Gokcay (Author), Ertugrul Kiykim (Author), Halise Neslihan Onenli Mungan (Author), Fatih Ezgu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...