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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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Библиографические подробности
Опубликовано в: :Mol Genet Metab Rep
Главный автор: Thurberg, Beth L.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2020
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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