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

• Главные авторы: Nur Arslan (Автор), Mahmut Coker (Автор), Gulden Fatma Gokcay (Автор), Ertugrul Kiykim (Автор), Halise Neslihan Onenli Mungan (Автор), Fatih Ezgu (Автор)
• Формат: ‌
• Опубликовано: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• Предметы: article
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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...