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...

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Detalhes bibliográficos
Publicado no:Iran J Child Neurol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Shahid Beheshti University of Medical Sciences 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6451857/
https://ncbi.nlm.nih.gov/pubmed/31037088
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