Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC

Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe lysosomal storage disease caused by deficiency in activity of the transmembrane enzyme heparan-α-glucosaminide N-acetyltransferase (HGSNAT) that catalyses the N-acetylation of α-glucosamine residues of heparan sulfate. Enzyme deficiency causes ab...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Dis Model Mech
Asıl Yazarlar: Marcó, Sara, Pujol, Anna, Roca, Carles, Motas, Sandra, Ribera, Albert, Garcia, Miguel, Molas, Maria, Villacampa, Pilar, Melia, Cristian S., Sánchez, Víctor, Sánchez, Xavier, Bertolin, Joan, Ruberte, Jesús, Haurigot, Virginia, Bosch, Fatima
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Company of Biologists Ltd 2016
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5047683/
https://ncbi.nlm.nih.gov/pubmed/27491071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.025171
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