TY  - JOUR 
AU  - Muschol, N.
AU  - Koehn, A.
AU  - von Cossel, K.
AU  - Okur, I.
AU  - Ezgu, F.
AU  - Harmatz, P.
AU  - De Castro López, María José
AU  - Couce Pico, María Luz
AU  - Lin, S.-P.
AU  - Batzios, S.
AU  - Cleary, M.
AU  - Solano, M.
AU  - Nestrasil, I.
AU  - Kaufman, B.
AU  - Shaywitz, A.J.
AU  - Maricich, S.M.
AU  - Kuca, B.
AU  - Kovalchin, J.
AU  - Zanelli, E.
PY  - 2023
SN  - 1558-8238
UR  - http://hdl.handle.net/20.500.11940/20996
AB  - BACKGROUND. Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement...
LA  - eng
KW  - Humans
KW  - Mucopolysaccharidosis III
KW  - Heparitin Sulfate
KW  - Brain
KW  - Liver
KW  - Spleen
TI  - A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
DO  - 10.1172/jci165076
T2  - Journal of Clinical Investigation
KW  - AS Santiago
KW  - CHUS
KW  - AS Santiago
KW  - CHUS
VL  - 133
ER  -