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Article

Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Terlato Nancy J, Cox Gerald F

Abstract excerpt

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive genetic disorder that results in a wide range of clinical symptoms from mild somatic complications and a normal lifespan to severe central nervous system involvement and a significantly shortened lifespan. An extensive review of the l...

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PMID: 12865757
DOI: 10.1097/01.GIM.0000078027.83236.49

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12865757-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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