Acid Sphingomyelinase Deficiency - Symptoms, Causes, Treatment

Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood–brain barrier

IT'S A MIRACLE! WE HAVE MADE CONTACT!

Full article: Impact of Potential Symptoms and Risks Associated with Acid Sphingomyelinase Deficiency on Patients and Caregivers: A Best-Worst Scaling Study

Discovery of Potent, Selective, and Direct Acid Sphingomyelinase Inhibitors with Antidepressant Activity

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B), Orphanet Journal of Rare Diseases

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers - ScienceDirect

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

Sphingomyelinase Deficiency: Practice Essentials, Pathophysiology, Etiology

About NPD - International Niemann-Pick Disease Alliance (INPDA)