Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis
Maria Domenica Cappellini, Irene Motta, Antonio Barbato, Gaetano Giuffrida, Raffaele Manna, Francesca Carubbi, Fiorina Giona
Topics & Concepts
Acid sphingomyelinaseMedicineDiseaseSphingomyelinLysosomal storage diseasePhenotypeLysosomal storage disordersMononuclear phagocyte systemNewborn screeningGeneImmunologyBioinformaticsInternal medicinePediatricsBiologyGeneticsCholesterolLysosomal Storage Disorders ResearchCarbohydrate Chemistry and SynthesisAutoimmune and Inflammatory Disorders Research