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.
Authors
- Amber Van Baelen (ORCID: https://orcid.org/0000-0001-8343-2543)
- Stijn Verhulst (ORCID: https://orcid.org/0000-0002-1922-9716)
- François Eyskens (ORCID: https://orcid.org/0000-0003-3981-0142)
Institutions
- University of Antwerp (BE)
- Antwerp University Hospital (BE)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2024-09-28
- DOI
- https://doi.org/10.1016/j.ymgmr.2024.101144
- Citations
- 2
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.91