Detalhe da pesquisa
1.
Neuropathology of murine Sanfilippo D syndrome.
Mol Genet Metab
; 134(4): 323-329, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34844863
2.
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome.
Mol Genet Metab
; 133(2): 185-192, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33839004
3.
Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice.
Mol Pharm
; 18(1): 214-227, 2021 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320673
4.
Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.
Mol Genet Metab
; 129(2): 91-97, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630958
5.
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Mol Genet Metab
; 129(2): 80-90, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31839529
6.
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes.
Genet Med
; 21(11): 2552-2560, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019279
7.
Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB.
Proc Natl Acad Sci U S A
; 111(41): 14870-5, 2014 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25267636
8.
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Mol Genet Metab
; 116(1-2): 69-74, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26260077
9.
Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts.
Biochem J
; 458(2): 281-9, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24266751
10.
Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I.
Mol Genet Metab
; 112(4): 286-93, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951454
11.
Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I.
Mol Genet Metab Rep
; 38: 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173710
12.
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.
bioRxiv
; 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585903
13.
Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I.
Mol Genet Metab
; 106(1): 68-72, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22402327
14.
Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease.
Mol Ther Methods Clin Dev
; 27: 452-463, 2022 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36419468
15.
Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep.
J Clin Invest
; 132(20)2022 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36040802
16.
Biochemical characterization of fluorescent-labeled recombinant human alpha-L-iduronidase in vitro.
Biotechnol Appl Biochem
; 58(6): 391-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22172101
17.
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I.
Mol Genet Metab
; 101(2-3): 115-22, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20655780
18.
Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.
Clin Chim Acta
; 508: 179-184, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442432
19.
Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice.
Lipids
; 55(6): 627-637, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32537944
20.
Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice.
Mol Ther Methods Clin Dev
; 10: 113-127, 2018 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30101150