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.
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
3.
Transforming the Future of Surgeon-Scientists.
Ann Surg
; 279(2): 231-239, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916404
4.
Guanidinoacetate (GAA) is a potent GABAA receptor GABA mimetic: Implications for neurological disease pathology.
J Neurochem
; 165(3): 445-454, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36726215
5.
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.
Proc Natl Acad Sci U S A
; 116(42): 21150-21159, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501335
6.
Targeted deletion of PAC1 receptors in retinal neurons enhances neuron loss and axonopathy in a model of multiple sclerosis and optic neuritis.
Neurobiol Dis
; 160: 105524, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34610465
7.
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Mol Ther
; 28(7): 1717-1730, 2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359471
8.
Mesangial sclerosis in a patient with type 1 diabetes following simultaneous pancreas-kidney transplantation despite maintenance of normoglycemia: a case report.
BMC Nephrol
; 22(1): 412, 2021 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34895162
9.
CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis.
Yale J Biol Med
; 94(4): 545-557, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34970092
10.
CPS1: Looking at an ancient enzyme in a modern light.
Mol Genet Metab
; 131(3): 289-298, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33317798
11.
A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.
J Inherit Metab Dis
; 42(6): 1044-1053, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30835861
12.
Hepatic glutamine synthetase augmentation enhances ammonia detoxification.
J Inherit Metab Dis
; 42(6): 1128-1135, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30724386
13.
Factors predicting kidney delayed graft function among recipients of simultaneous liver-kidney transplantation: A single-center experience.
Clin Transplant
; 33(6): e13569, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006141
14.
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Mol Genet Metab
; 124(4): 243-253, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801986
15.
Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice.
Mol Genet Metab
; 124(2): 114-123, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29724658
16.
Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy.
J Neurosci
; 36(25): 6680-90, 2016 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27335400
17.
A High-Throughput Platform for Formulating and Screening Multifunctional Nanoparticles Capable of Simultaneous Delivery of Genes and Transcription Factors.
Angew Chem Int Ed Engl
; 55(1): 169-73, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768819
18.
Augmentation of transgene-encoded protein after neonatal injection of adeno-associated virus improves hepatic copy number without immune responses.
Pediatr Res
; 78(3): 239-246, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26042522
19.
Optimizing HLA matching in a highly sensitized pediatric patient using ABO-incompatible and paired exchange kidney transplantation.
Pediatr Nephrol
; 30(5): 855-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25750074
20.
Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice.
Mol Ther
; 22(10): 1792-802, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24888478