Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, belonging to the group of lysosomal storage diseases (LSDs). GD is caused by a defect in lysosomal glucocerebrosidase, responsible for glucosylceramide breakdown into glucose and ceramide. Because of this dysfunction, glucosy...

Descripción completa

Detalles Bibliográficos
Autores principales: Rossi, Claudia, Ferrante, Rossella, Valentinuzzi, Silvia, Zucchelli, Mirco, Buccolini, Carlotta, Di Rado, Sara, Trotta, Daniela, Stuppia, Liborio, Federici, Luca, Aricò, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10604114/
https://www.ncbi.nlm.nih.gov/pubmed/37893047
http://dx.doi.org/10.3390/biomedicines11102672

Ejemplares similares

Ejemplares similares