From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in C...
From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children
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Switzerland: MDPI AG
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English
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Switzerland: MDPI AG
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Background: Acid sphingomyelinase deficiency (ASMD), most commonly known as Niemann–Pick disease (NPD), is a rare progressive genetic disorder regarding lipid storage. Subtypes A and B are inherited in an autosomal recessive fashion and consist of a genetic defect which affects the sphingomyelin phosphodiesterase 1 gene, leading to residual or lack...
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From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children
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TN_cdi_doaj_primary_oai_doaj_org_article_a8ea8cbecd39430f92c28ec95bb7bc5c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a8ea8cbecd39430f92c28ec95bb7bc5c
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ISSN
2075-4418
E-ISSN
2075-4418
DOI
10.3390/diagnostics15070804
