Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysoso...

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Detalles Bibliográficos
Autores principales: Brusius-Facchin, Ana Carolina, Siebert, Marina, Leão, Delva, Malaga, Diana Rojas, Pasqualim, Gabriela, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto, Leistner-Segal, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687349/
https://www.ncbi.nlm.nih.gov/pubmed/30985855
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0102

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687349/
https://www.ncbi.nlm.nih.gov/pubmed/30985855
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0102

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