Litcius/Paper detail

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

Eline C. B. Eskes, Barbara Sjouke, Frédéric M. Vaz, Susan Goorden, André B. P. Kuilenburg, Johannes M. F. G. Aerts, Carla E. M. Hollak

2020Molecular Genetics and Metabolism36 citationsDOIOpen Access PDF

Topics & Concepts

SphingomyelinAcid sphingomyelinaseMedicineNiemann–Pick diseaseSurrogate endpointBiomarkerPathologyDiseaseInternal medicineCholesterolBiologyBiochemistryLysosomal Storage Disorders ResearchAutoimmune and Inflammatory Disorders ResearchTrypanosoma species research and implications