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Article

Screening patients referred to a metabolic clinic for lysosomal storage disorders.

Journal of medical genetics - 1 Jun 2011

Fuller Maria, Tucker Justin N, Lang Debbie L, Dean Caroline J, Fietz Michael J, Meikle Peter J, Hopwood John J

Abstract excerpt

BACKGROUND: Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). DESIGN: 1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot. RESULTS: All patients with Pompe disease, metachromatic leukodystrophy, and mucopolysaccharidosis (MPS)...

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Identifiers

PMID: 21415080
DOI: 10.1136/jmg.2010.088096

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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