Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital

Author:

Carnicer-Cáceres Clara,Villena-Ortiz Yolanda,Castillo-Ribelles Laura,Barquín-del-Pino Raquel,Camprodon-Gomez Maria,Felipe-Rucián Ana,Moreno-Martínez David,Lucas-del-Pozo Sara,Hernández-Vara Jorge,García-Serra Anna,Tigri-Santiña Ariadna,Moltó-Abad Marc,Agraz-Pamplona Irene,Rodriguez-Palomares Jose F.,Limeres-Freire Javier,Macaya-Font Marc,Rodríguez-Sureda Victor,Miguel Lucy Dougherty-De,del-Toro-Riera Mireia,Pintos-Morell Guillem,Arranz-Amo Jose Antonio

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference46 articles.

1. Lysosomal storage disorders: molecular basis and laboratory testing;Filocamo;Hum. Genomics,2011

2. Lysosomal disorders: from storage to cellular damage;Ballabio;Biochim. Biophys. Acta, Mol. Cell Res.,2009

3. Lysosomal Storage Diseases - PubMed;Ferreira,2017

4. Epidemiology of Lysosomal Storage Diseases: An Overview;Fuller,2006

5. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri;Hopkins;J. Pediatr.,2015

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