Niemann-Pick Disease: Seven Questions about it

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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Nato D. Vashakmadze, Nataliya V. Zhurkova
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: "Paediatrician" Publishers LLC 2023-12-01
Seri Bilgileri:Вопросы современной педиатрии
Konular:
niemann-pick disease
types a and b
acid sphingomyelinase deficiency
lysosomal storage diseases
Online Erişim:https://vsp.spr-journal.ru/jour/article/view/3357
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller