Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

All newborn screening (NBS) for mucopolysaccharidosis-I and -II (MPS-I and MPS-II) is carried out via the measurement of α-iduronidase (IDUA) and iduronate-2-sulfatase (IDS) enzymatic activity, respectively, in dried blood spots (DBS). The majority of low enzyme results are due to pseudodeficiencies...

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Detalles Bibliográficos
Autores principales: Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Burton, Barbara K., Basheeruddin, Khaja, Liao, Hsuan-Chieh, Fuller, Maria, Gelb, Michael H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884011/
https://www.ncbi.nlm.nih.gov/pubmed/35225932
http://dx.doi.org/10.3390/ijns8010009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884011/
https://www.ncbi.nlm.nih.gov/pubmed/35225932
http://dx.doi.org/10.3390/ijns8010009

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