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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab Rep
Päätekijät: Curelaru, Shiri, Zehavi, Yoav, Almagor, Tal, Spiegel, Ronen
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2021
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7941164/
https://ncbi.nlm.nih.gov/pubmed/33732620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100739
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia