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Article

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

European journal of pediatrics - 1 Jun 2012

D'Aco Kristin, Underhill Lisa, Rangachari Lakshmi, Arn Pamela, Cox Gerald F, Giugliani Roberto, Okuyama Torayuki, Wijburg Frits, Kaplan Paige

Abstract excerpt

UNLABELLED: Our objective was to assess how the diagnosis and treatment of mucopolysaccharidosis I (MPS I) have changed over time. We used data from 891 patients in the MPS I Registry, an international observational database, to analyze ages at symptom onset, diagnosis, treatment initiation, and treatment allocation (hematopoietic stem cell transplantation, enzyme replacement therapy with laronidase, both, or...

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Identifiers

PMID: 22234477
DOI: 10.1007/s00431-011-1644-x
PMCID: PMC3357468

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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