Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I

All newborn screening (NBS) for mucopolysaccharidosis-I (MPS-I) is carried out by the measurement of α-iduronidase (IDUA) enzymatic activity in dried blood spots (DBS). The majority of low enzyme results are due to pseudodeficiencies, and studies from the Mayo Clinic have shown that the false positi...

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Detalles Bibliográficos
Autores principales: Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Fuller, Maria, Gelb, Michael H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7570209/
https://www.ncbi.nlm.nih.gov/pubmed/33123640
http://dx.doi.org/10.3390/ijns6030069

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7570209/
https://www.ncbi.nlm.nih.gov/pubmed/33123640
http://dx.doi.org/10.3390/ijns6030069

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