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Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder. Perinatal and early infantile onset NPC are the most severe types of the disease. Early infantile type is characterized by a rapidly progressive neurodegenerative course, which entails significant morbi...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941164/ https://www.ncbi.nlm.nih.gov/pubmed/33732620 http://dx.doi.org/10.1016/j.ymgmr.2021.100739 |