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Optimization of enzymatic diagnosis for mucopolysaccharidosis I in dried blood spots on filter paper

✍ Scribed by Campos, Derbis; Monaga, Madelyn; González, Ernesto C.; Herrera, Darlenis; de la Peña, Daniurys

Book ID
123604826
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
490 KB
Volume
46
Category
Article
ISSN
0009-9120

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## Abstract __Background__: Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the α‐L‐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