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Article

Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

Journal of inherited metabolic disease - 1 Jan 2001

Maire I

Abstract excerpt

Understanding the relationship between genotype and clinical phenotype will clearly aid in the prognosis, treatment and counselling of patients with lysosomal storage diseases (LSDs). This, however, will require the establishment of widely accepted indices with which to score the severity of LSDs, as these diseases are characterized by their marked clinical heterogeneity. Even in the complete absence of a...

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PMID: 11758680
DOI: 10.1023/a:1012419823739

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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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