Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

BACKGROUND: Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics. METHODS: We evaluated the distribution, and clinical and genetic characteristics of GD patients in the Iberian Peninsula (IP). We...

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Main Authors: Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Gort, Laura, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel, Sá Miranda, Clara M, Pocovi, Miguel
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2012
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3349595/
https://ncbi.nlm.nih.gov/pubmed/22429443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-17
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