Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including pheno...

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Detalles Bibliográficos
Autores principales: Fernández-Marmiesse, Ana, Morey, Marcos, Pineda, Merce, Eiris, Jesús, Couce, Maria Luz, Castro-Gago, Manuel, Fraga, Jose Maria, Lacerda, Lucia, Gouveia, Sofia, Pérez-Poyato, Maria Socorro, Armstrong, Judith, Castiñeiras, Daisy, Cocho, Jose A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024120/
https://www.ncbi.nlm.nih.gov/pubmed/24767253
http://dx.doi.org/10.1186/1750-1172-9-59

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024120/
https://www.ncbi.nlm.nih.gov/pubmed/24767253
http://dx.doi.org/10.1186/1750-1172-9-59

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