不明原因的脾脏肿大是一种罕见但严重疾病的诊断标志，可采用创新、高效的新治疗方案：病例报告

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Molecular Genetics and Metabolism Reports Pub Date : 2024-09-28 DOI:10.1016/j.ymgmr.2024.101144

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引用次数: 0

摘要

酸性鞘磷脂酶缺乏症（ASMD）是一种溶酶体贮积症，如不及时治疗可导致严重并发症。本病例旨在强调及早了解 ASMD 的重要性，并首次在文献中介绍一种针对儿童的新型高效治疗方案。

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Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report

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.

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.