Detalhe da pesquisa
1.
Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease.
Gene Ther
; 30(6): 487-502, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631545
2.
Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use.
Clin Chem Lab Med
; 61(2): 302-310, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36395058
3.
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
Int J Mol Sci
; 24(12)2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373322
4.
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
Dev Med Child Neurol
; 64(12): 1539-1546, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833379
5.
Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.
J Med Genet
; 57(1): 38-47, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31519711
6.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Sci Transl Med
; 16(729): eadh1334, 2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198573
7.
Quantitative, multiplexed, targeted proteomics for ascertaining variant specific SARS-CoV-2 antibody response.
Cell Rep Methods
; 2(9): 100279, 2022 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35975199
8.
Plasma proteomic signature predicts who will get persistent symptoms following SARS-CoV-2 infection.
EBioMedicine
; 85: 104293, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182629
9.
Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients.
Biochim Biophys Acta Mol Basis Dis
; 1865(10): 2726-2735, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319156