The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene. It can lead to death in early childhood in its most severe form. According to previous registries, the birth prevalenc...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2023-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.jbcgenetics.com/?mno=302656906 |
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