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Mucopolysaccharidosis-Plus Syndrome

Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific muta...

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Detalles Bibliográficos
Autores principales: Vasilev, Filipp, Sukhomyasova, Aitalina, Otomo, Takanobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013929/
https://www.ncbi.nlm.nih.gov/pubmed/31936524
http://dx.doi.org/10.3390/ijms21020421