Spontaneous splenic rupture as the first clinical manifestation of Niemann-Pick disease type B: A case report and review of the literature-Reference-Cited by-同舟云学术

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Spontaneous splenic rupture as the first clinical manifestation of Niemann-Pick disease type B: A case report and review of the literature

Published:2022-07 Issue:4 Volume:16 Page:434-437
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Lan Min-Yu^ORCID,Kang Tsung-Wei,Lan Shih-Chun^ORCID,Huang Wan-Ting^ORCID

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference11 articles.

1. Acid sphingomyelinase deficiency;Wasserstein,2006

2. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD);McGovern;Orphanet J Rare Dis,2017

3. SMPD1 mutation update: database and comprehensive analysis of published and novel variants;Zampieri;Hum Mutat,2016

4. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency;Deodato;Clin Chim Acta,2018

5. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B;McGovern;Pediatrics,2008

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Newborn Screening for 6 Lysosomal Storage Disorders in China;JAMA Network Open;2024-05-13

2. Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches;Cell Biochemistry and Function;2024-05-07

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