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Article

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Journal of inherited metabolic disease - 1 Mar 2018

Burlina Alberto B, Polo Giulia, Salviati Leonardo, Duro Giovanni, Zizzo Carmela, Dardis Andrea, Bembi Bruno, Cazzorla Chiara, Rubert Laura, Zordan Roberta, Desnick Robert J, Burlina Alessandro P

Abstract excerpt

BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East...

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Identifiers

PMID: 29143201
DOI: 10.1007/s10545-017-0098-3

Genes

GAA
GLA
IDUA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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