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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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
Matèries:
Research Paper
Accés en línia: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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