Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis

OBJECTIVES: Niemann-Pick diseases (NPD) is an autosomal recessive inherited lysosomal lipid storage disorder which occurs due to a defect in cellular cholesterol trafficking, leading to excess lipid accumulation in multiple organ systems such as the brain, lungs, spleen, and liver. SPMD1-associated...

Descripción completa

Detalles Bibliográficos
Autores principales: Hashemian, Somayyeh, Eshraghi, Peyman, Dilaver, Nafi, Galehdari, Hamid, Shalbafan, Bita, Vakili, Rahim, Ghaemi, Nosrat, Ahangari, Najmeh, Rezazadeh Varaghchi, Jamileh, Zeighami, Jawaher, Sedaghat, Alireza, Aminzadeh, Majid, Hamid, Mohammad, Saberi, Alihossein, Ashtari, Fereshteh, Ghayoor Karimiani, Ehsan, Shariati, Gholamreza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451857/
https://www.ncbi.nlm.nih.gov/pubmed/31037088

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451857/
https://www.ncbi.nlm.nih.gov/pubmed/31037088

Ejemplares similares