Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
Abstract Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. In the type 2 form of the...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wiley
2020-10-01
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| Seri Bilgileri: | Molecular Genetics & Genomic Medicine |
| Konular: | |
| Online Erişim: | https://doi.org/10.1002/mgg3.1371 |
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