Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often goes undiagnosed due to its rarity and phenotypic heterogeneity. This study aims to evalu...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-12-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/10/4/79 |
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