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Article

Mucopolysaccharidosis type II--genotype/phenotype aspects.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Jan 2002

Froissart R, Moreira da Silva I, Guffon N, Bozon D, Maire I

Abstract excerpt

UNLABELLED: Establishing correlations between a patient's genotype and clinical phenotype is based on the assumption that the same clinical consequences will be observed in individuals with the same residual function of a specific metabolic step. In mucopolysaccharidosis type II (MPS II; Hunter disease), patients present with a wide clinical spectrum. Furthermore, current methods for measuring the activity of the...

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Source

Identifiers

PMID: 12572848
DOI: 10.1111/j.1651-2227.2002.tb03116.x

Genes

IDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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