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An evaluation of an enzyme immunoassay method for immunoreactive trypsin in dried blood spots

โœ Scribed by Giulio Cabrini; Fabio Pederzini; Laura Perobelli; Gianni Mastella


Book ID
107740454
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
535 KB
Volume
23
Category
Article
ISSN
0009-9120

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## Abstract __Background__: Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the ฮฑโ€Lโ€iduronidase (IDUA), which leads to the accumulation of glycosaminoglycans in lysosomes. MPS I patients present a spectrum ranging from a severe to an attenuated phenotype. Once clinical suspicion i