Detalhe da pesquisa
1.
Expression and function of the urea cycle in widely-used hepatic cellular models.
J Inherit Metab Dis
; 2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192032
2.
Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.
Hepatology
; 76(3): 646-659, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34786702
3.
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
J Inherit Metab Dis
; 46(1): 129-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225138
4.
Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.
Clin Chem Lab Med
; 61(10): 1792-1801, 2023 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37011034
5.
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.
J Inherit Metab Dis
; 45(2): 235-247, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34671989
6.
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Int J Mol Sci
; 23(23)2022 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36499263
7.
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Mol Genet Metab
; 133(2): 157-181, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33965309
8.
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
J Inherit Metab Dis
; 42(4): 620-628, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767241
9.
NMR Investigation of Structures of G-protein Coupled Receptor Folding Intermediates.
J Biol Chem
; 291(53): 27170-27186, 2016 12 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864365
10.
Structural characterization of triple transmembrane domain containing fragments of a yeast G protein-coupled receptor in an organic : aqueous environment by solution-state NMR spectroscopy.
J Pept Sci
; 21(3): 212-22, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645975
11.
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
Orphanet J Rare Dis
; 19(1): 3, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167094
12.
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Nat Metab
; 5(1): 80-95, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36717752
13.
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta.
Front Genet
; 12: 662751, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34093655
14.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
15.
Understanding GPCR Recognition and Folding from NMR Studies of Fragments.
RSC Adv
; 8(18): 9858-9870, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29732143
16.
Impact of small molecule-mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism.
Cancer Commun (Lond)
; 43(4): 508-512, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708276