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TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia
Acid sphingomyelinase deficiency (ASMD)—also known as Niemann–Pick (NP) disease—is a rare, autosomal recessive disorder which is characterized by deficiency of the lysosomal enzyme acid sphingomyelinase (ASM), resulting in excessive storage of lipids in organs (i.e., spleen, liver, lung, bone marrow...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Healthcare
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209358/ https://www.ncbi.nlm.nih.gov/pubmed/36867368 http://dx.doi.org/10.1007/s40119-023-00308-7 |