Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

Mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders which can lead to degenerative and irreversible skeletal, cardiovascular, pulmonary, and neurological damage. Current treatments, including hematopoietic stem cell transplantation and enzyme replacement therapy, have been found...

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Detalles Bibliográficos
Autores principales: Stapleton, Molly, Kubaski, Francyne, Mason, Robert W., Shintaku, Haruo, Kobayashi, Hironori, Yamaguchi, Seiji, Taketani, Takeshi, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu, Shunji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957835/
https://www.ncbi.nlm.nih.gov/pubmed/31956510
http://dx.doi.org/10.1016/j.ymgmr.2019.100563

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957835/
https://www.ncbi.nlm.nih.gov/pubmed/31956510
http://dx.doi.org/10.1016/j.ymgmr.2019.100563

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