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Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report
Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body. The infantile neurovisceral (ASMD type A, also known as Nieman...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Elsevier
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371898/ https://www.ncbi.nlm.nih.gov/pubmed/32714837 http://dx.doi.org/10.1016/j.ymgmr.2020.100626 |