Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid...
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.
We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in which both mutations that induce an early stop codon are located before the second in-frame...
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Full title
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management
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TN_cdi_doaj_primary_oai_doaj_org_article_6f6092e76c624afd8aff8a61802b4c35
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6f6092e76c624afd8aff8a61802b4c35
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ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-020-01027-9
