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Article

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

International journal of molecular sciences - 30 Jan 2022

Dinur Tama, Bauer Peter, Beetz Christian, Kramp Guido, Cozma Claudia, Iurașcu Marius-Ionuț, Becker-Cohen Michal, Istaiti Majdolen, Rolfs Arndt, Zimran Ari, Revel-Vilk Shoshana

Abstract excerpt

For years, the gold standard for diagnosing Gaucher disease (GD) has been detecting reduced β-glucocerebrosidase (GCase) activity in peripheral blood cells combined with GBA1 mutation analysis. The use of dried blood spot (DBS) specimens offers many advantages, including easy collection, the need for a small amount of blood, and simpler transportation. However, DBS has limitations for measuring GCase activity. In...

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Identifiers

PMID: 35163551
DOI: 10.3390/ijms23031627
PMCID: PMC8835963

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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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