Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Annie L.A. Nguyen"'
Autor:
Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon-Roberts, Annie L.A. Nguyen, TianMeng Xu, Camila Pará, Yojiro Yamanaka, David A. Priestman, Frances M. Platt, Shaukat Khan, Nidhi Fnu, Shunji Tomatsu, Carlos R. Morales, Alexey V. Pshezhetsky
The majority of mucopolysaccharidosis IIIC (MPS IIIC) patients have missense variants causing misfolding of heparan sulfate acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT), which are potentially treatable with pharmacological chaperones. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d581a89a1cd7814afc25e275b4725b1
https://doi.org/10.1084/jem.20211860
https://doi.org/10.1084/jem.20211860
