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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6957835/
https://ncbi.nlm.nih.gov/pubmed/31956510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100563
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