Clinical implementation of gene panel testing for lysosomal storage diseases

BACKGROUND: The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic testing. However, due to the sequential nature of this method...

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Detalles Bibliográficos
Autores principales: Gheldof, Alexander, Seneca, Sara, Stouffs, Katrien, Lissens, Willy, Jansen, Anna, Laeremans, Hilde, Verloo, Patrick, Schoonjans, An‐Sofie, Meuwissen, Marije, Barca, Diana, Martens, Geert, De Meirleir, Linda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393649/
https://www.ncbi.nlm.nih.gov/pubmed/30548430
http://dx.doi.org/10.1002/mgg3.527

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393649/
https://www.ncbi.nlm.nih.gov/pubmed/30548430
http://dx.doi.org/10.1002/mgg3.527

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