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pro vyhledávání: '"Amanda Collar"'
Autor:
Amanda Collar
Publikováno v:
Annals of Internal Medicine. 176:408-409
Autor:
antony cougnoux, Rebecca Drummond, Mason Fellmeth, Fatemeh Navid, Amanda Collar, James Iben, Niamh Cawley, Christopher Wassif, James Pickel, Ashok Kulkarni, Michail Lionakis, Forbes Porter
Publikováno v:
The Journal of Immunology. 204:64.23-64.23
Lysosomal storage diseases (LSDs) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme or transporter deficiencies. Depending on the affected metabolic pathway, th