New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report

OBJECTIVE: Niemann Pick disease (NPD) type A (NPA: MIM #257200) is a lipid storage disorder with an autosomal recessive inheritance and occurrs by defect of the SMPD1 gene encoding sphingomyelinase. Disruption of this enzyme leads to the accumulation of sphingomyelin in brain and liver, which in tur...

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Detalles Bibliográficos
Autores principales: Galehdari, Hamid, Tangestani, Raheleh, Ghasemian, Sepideh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663321/
https://www.ncbi.nlm.nih.gov/pubmed/23724191

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