Detalhe da pesquisa
1.
Prednisolone and rapamycin reduce the plasma cell gene signature and may improve AAV gene therapy in cynomolgus macaques.
Gene Ther;
31(3-4): 128-143, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37833563
2.
Burosumab Therapy in Children with X-Linked Hypophosphatemia.
N Engl J Med;
378(21): 1987-1998, 2018 05 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29791829
3.
Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses.
Mol Genet Metab;
130(1): 7-15, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32224020
4.
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.
Mol Genet Metab;
130(4): 255-261, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32563631
5.
Vestronidase alfa: Recombinant human ß-glucuronidase as an enzyme replacement therapy for MPS VII.
Mol Genet Metab;
130(1): 65-76, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32192868
6.
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).
J Inherit Metab Dis;
42(1): 169-177, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30740733
7.
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.
Mol Genet Metab;
123(4): 488-494, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29478819
8.
The transformation of drug development for the 21st century: Time for a change.
Mol Genet Metab;
137(1-2): 107-113, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35985171
9.
First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient.
Mol Genet Metab;
114(2): 203-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25468648
10.
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.
Mol Genet Metab;
116(1-2): 53-60, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26116311
11.
The 21st Century Cures Act.
N Engl J Med;
373(17): 1678, 2015 10 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26488712
12.
Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression.
Mol Ther Methods Clin Dev;
24: 292-305, 2022 Mar 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35211641
13.
Arterial pathology in canine mucopolysaccharidosis-I and response to therapy.
Lab Invest;
91(5): 665-74, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21383673
14.
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I.
J Clin Invest;
118(8): 2868-76, 2008 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18654665
15.
The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases.
Orphanet J Rare Dis;
16(1): 183, 2021 04 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33874971
16.
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders.
Orphanet J Rare Dis;
16(1): 141, 2021 03 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33743771
17.
Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept.
Mol Ther Methods Clin Dev;
20: 191-203, 2021 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33426146
18.
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.
J Neuromuscul Dis;
8(2): 225-234, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33459658
19.
Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen.
Mol Genet Metab;
99(2): 132-41, 2010 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19896877
20.
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
Mol Genet Metab;
99(4): 346-50, 2010 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20036175