Niemann-Pick disease type-B: a unique case report with compound
Por um escritor misterioso
Last updated 03 julho 2024
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Background Niemann-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. Conclusions The pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described.
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PDF) A case of Niemann-Pick disease type A
![Niemann-Pick disease type-B: a unique case report with compound](https://pubs.acs.org/cms/10.1021/acs.molpharmaceut.2c00463/asset/images/medium/mp2c00463_0005.gif)
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient
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Frontiers Case Report: Be Aware of “New” Features of Niemann
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Cureus Niemann-Pick Disease: A Case Report and Literature Review
![Niemann-Pick disease type-B: a unique case report with compound](https://pub.mdpi-res.com/ijms/ijms-21-05368/article_deploy/html/images/ijms-21-05368-g001.png?1596036440)
IJMS, Free Full-Text
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Mitochondrial dysfunction in fibroblasts derived from patients
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Niemann–Pick type C disease: cellular pathology and
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Niemann Pick Disease
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A novel mutation in two Spanish children with Niemann Pick disease
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Niemann-Pick disease type C Orphanet Journal of Rare Diseases
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An uncommon inheritance pattern in Niemann-Pick disease type C
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Niemann-Pick disease type-B: a unique case report with compound
![Niemann-Pick disease type-B: a unique case report with compound](https://ars.els-cdn.com/content/image/1-s2.0-S0939641118309627-ga1.jpg)
Liposome-targeted recombinant human acid sphingomyelinase
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PDF) Niemann - Pick Disease Type B: A Case Report
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Niemann-Pick Diseases - The Medical Biochemistry Page
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