AI Article Synopsis
- Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can cause serious health issues if not treated quickly.
- The case emphasizes the need for early awareness and diagnosis of ASMD.
- It also presents a new, highly effective treatment option for children, marking a significant advance in the literature.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465196 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2024.101144 | DOI Listing |
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