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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Udgivet i:Genet Mol Biol
Main Authors: Brusius-Facchin, Ana Carolina, Siebert, Marina, Leão, Delva, Malaga, Diana Rojas, Pasqualim, Gabriela, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto, Leistner-Segal, Sandra
Format: Artigo
Sprog:Inglês
Udgivet: Sociedade Brasileira de Genética 2019
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687349/
https://ncbi.nlm.nih.gov/pubmed/30985855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2018-0102
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