不明原因脾肿大作为一种罕见但严重疾病的诊断标志物及一种创新且高效的新治疗选择：病例报告
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report.
作者信息
Van Baelen Amber, Verhulst Stijn, Eyskens François
机构信息
Center of Inherited Metabolic Diseases, Antwerp University Hospital, Drie Eikenstraat, 655 2650 Edegem, Belgium.
Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen Campus Drie Eiken Building T, Belgium.
出版信息
Mol Genet Metab Rep. 2024 Sep 28;41:101144. doi: 10.1016/j.ymgmr.2024.101144. eCollection 2024 Dec.
Abstract
Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in the literature, a new and highly effective treatment option for children.
摘要
酸性鞘磷脂酶缺乏症（ASMD）是一种溶酶体贮积症，如果不及时治疗，可能会导致严重并发症。本病例旨在强调早期认识ASMD的至关重要性，并在文献中首次介绍一种针对儿童的全新且高效的治疗方案。
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Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
J Inherit Metab Dis. 2025 Jan;48(1):e12789. doi: 10.1002/jimd.12789. Epub 2024 Aug 23.
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Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.
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Mol Genet Metab Rep. 2024 Jan 17;38:101052. doi: 10.1016/j.ymgmr.2024.101052. eCollection 2024 Mar.
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A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry.
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Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6.
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Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0.
8
Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.
Eur J Intern Med. 2023 Feb;108:81-84. doi: 10.1016/j.ejim.2022.11.028. Epub 2022 Nov 26.
9
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med. 2022 Jul;24(7):1425-1436. doi: 10.1016/j.gim.2022.03.021. Epub 2022 Apr 26.
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