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Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges
Acid sphingomyelinase deficiency (ASMD) is caused by pathogenic variants in the SMPD1 gene. This chronic, progressive, and potentially fatal condition requires prompt specialist care. The diagnosis of ASMD can be delayed or missed if patients that harbor the Q294K mutation undergo enzyme activity as...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421469/ https://www.ncbi.nlm.nih.gov/pubmed/36046391 http://dx.doi.org/10.1016/j.ymgmr.2022.100900 |