Niemann-Pick Disease: Seven Questions about it

• المؤلفون الرئيسيون: Nato D. Vashakmadze (مؤلف), Nataliya V. Zhurkova (مؤلف)
• التنسيق: كتاب
• منشور في: "Paediatrician" Publishers LLC, 2023-12-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neur...