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...

Descripción completa

Detalles Bibliográficos
Autores principales: Blümlein, Ulrike, Mengel, Eugen, Amraoui, Yasmina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Short Communication
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

Internet

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

Ejemplares similares