An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of li...
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem lysosomal storage disease caused by deficiency of the enzyme α-L-iduronidase (IDUA). Patients present with a continuous spectrum of disease severity, and the most severely affected patients (Hurler phenotype; MPS I-H) develop progressive cognitive impairment. The treatment of choice...
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Full title
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3710214
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3710214
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-8-99
