Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt

BACKGROUND: Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes are the primary cause of mucopolyscchardoses. Mucopolysacchardoses (MPS) are a group of rare lysosomal storage diseases (LSD). The quantification of a specific enzymatic activity is needed for accurate diagnosis. The o...

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Detalles Bibliográficos
Autores principales: Fateen, Ekram, Abdallah, Zeinab Y., Nazim, Walaa S., Ibrahim, Mona, Radwan, Amira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387752/
https://www.ncbi.nlm.nih.gov/pubmed/34471711
http://dx.doi.org/10.1016/j.heliyon.2021.e07830

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387752/
https://www.ncbi.nlm.nih.gov/pubmed/34471711
http://dx.doi.org/10.1016/j.heliyon.2021.e07830

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