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pro vyhledávání: '"Melisa Vance"'
Autor:
Laurie R. Goodrich, Joanne Kurtzberg, Llanga Telmo, Richard Jude Samulski, Matthew L. Hirsch, Melisa Vance
Publikováno v:
Blood. 126:2041-2041
Mucopolysaccharidosis type 1 (MPS1), also known as Hurler syndrome, is a genetic lysosomal storage disease that results from the loss-of-function mutations present on the L-iduronidase (IDUA) gene. As a consequence, glycosaminoglycans accumulate aber