Detalhe da pesquisa
1.
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 628(8009): 872-877, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570682
2.
Publisher Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 630(8017): E13, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38844679
3.
Author Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 629(8011): E10, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649490
4.
The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.
Am J Med Genet A
; : e63637, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38682838
5.
Gene therapy for glycogen storage diseases.
J Inherit Metab Dis
; 47(1): 93-118, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421310
6.
Phase I study of liver depot gene therapy in late-onset Pompe disease.
Mol Ther
; 31(7): 1994-2004, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36805083
7.
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.
Am J Med Genet C Semin Med Genet
; 193(1): 30-43, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36738469
8.
Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease.
J Gene Med
; 25(8): e3509, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994804
9.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207470
10.
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Clin Genet
; 103(2): 167-178, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250278
11.
Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.
Hum Mol Genet
; 29(2): 286-294, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816064
12.
Gene therapy for glycogen storage diseases.
Hum Mol Genet
; 28(R1): R31-R41, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227835
13.
Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.
Hum Mol Genet
; 28(1): 143-154, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30256948
14.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057031
15.
Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.
Mol Genet Metab
; 129(1): 3-12, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31787497
16.
Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.
Mol Genet Metab
; 129(2): 73-79, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645300
17.
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
Mol Genet Metab
; 130(3): 209-214, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418857
18.
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.
Mol Genet Metab
; 129(2): 67-72, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31839530
19.
Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.
Mol Ther
; 26(9): 2304-2314, 2018 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30025991
20.
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(6): 100831, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37031408