HIGHLIGHTS
- who: Gaetano Giuffrida from the Division of Haematology, AOUPoliclinico Vittorio Emanuele, Catania, Italy Imaging Sciences, University of Messina, Messina, Italy have published the paper: Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review, in the Journal: (JOURNAL)
SUMMARY
Gaucher disease (GD) is a rare, inherited, autosomal recessive, lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase (GBA) (also known as glucosylceramidase and glucocerebrosidase). Elevated chitotriosidase activity also occurs in other lysosomal storage disorders and inflammatory processes (i.e., tuberculosis, sarcoidosis, and β-thalassemia, Krabbe disease, GM1 . . .
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