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Article

Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2017

Grosse Scott D, Lam Wendy K K, Wiggins Lisa D, Kemper Alex R

Abstract excerpt

The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the evidence suggesting that earlier treatment with hematopoietic cell transplantation (HCT) for the most severe form, Hurler syndrome (MPS IH), would lead to...

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Identifiers

PMID: 28125077
DOI: 10.1038/gim.2016.223
PMCID: PMC5763496

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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