ArticleBMC medical genetics2020
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 11 citations in OpenAlex.
- Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.Molecular and cellular pediatrics · 2025Article
- Article
- Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.Journal of clinical medicine · 2022Review
- Impact of Intravenous Trehalose Administration in Patients with Niemann-Pick Disease Types A and B.Journal of clinical medicine · 2022Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNiemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. CASE PRESENTATION: 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 initiation codon. The clinical presentation of the patient is compatible with NPD type B. She was initially diagnosed of Gaucher Disease, but her altered lipid profile led to a clinical suspicion of NPD. Combined high doses of atorvastatin and ezetimibe were given to treat the severe hypercholesterolemia.
conclusionsThe pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described.
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