Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

BACKGROUND: GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, suc...

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Detalles Bibliográficos
Autores principales: Di Rocco, Maja, Vici, Carlo Dionisi, Burlina, Alberto, Venturelli, Francesco, Fiumara, Agata, Fecarotta, Simona, Donati, Maria Alice, Spada, Marco, Concolino, Daniela, Pession, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362631/
https://www.ncbi.nlm.nih.gov/pubmed/37480063
http://dx.doi.org/10.1186/s13023-023-02797-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362631/
https://www.ncbi.nlm.nih.gov/pubmed/37480063
http://dx.doi.org/10.1186/s13023-023-02797-0

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