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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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| Опубликовано в: : | Mol Genet Metab Rep |
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| Главный автор: | |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7371898/ https://ncbi.nlm.nih.gov/pubmed/32714837 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100626 |
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