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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
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 |
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