Detalhe da pesquisa
1.
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Mol Genet Metab
; 140(3): 107680, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567036
2.
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).
Mol Genet Metab
; 139(3): 107628, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354891
3.
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Mol Genet Metab
; 140(3): 107668, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549443
4.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Am J Med Genet A
; 191(3): 776-785, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537114
5.
Correction: CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models.
PLoS Comput Biol
; 17(10): e1009551, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34695129
6.
CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models.
PLoS Comput Biol
; 17(1): e1008550, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513132
7.
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(2): 249-258, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33071282
8.
SUMOylome Profiling Reveals a Diverse Array of Nuclear Targets Modified by the SUMO Ligase SIZ1 during Heat Stress.
Plant Cell
; 30(5): 1077-1099, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29588388
9.
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Genet Med
; 21(9): 1977-1986, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670878
10.
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Genet Med
; 20(10): 1274-1283, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419819
11.
Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay.
Mol Genet Metab
; 121(2): 83-90, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28412083
12.
Acute Hyperammonemia, Lactic Acidosis, and Ketoacidosis in a Developmentally Normal Child.
Clin Chem
; 67(11): 1572-1574, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34726698
13.
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
J Pediatr
; 169: 208-13.e2, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26602010
14.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Mol Genet Metab
; 116(3): 139-45, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385305
15.
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
J Inherit Metab Dis
; 38(6): 1029-39, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875217
16.
Quantitative proteomics reveals factors regulating RNA biology as dynamic targets of stress-induced SUMOylation in Arabidopsis.
Mol Cell Proteomics
; 12(2): 449-63, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23197790
17.
Improved standards for prenatal diagnosis of citrullinemia.
Mol Genet Metab
; 112(3): 205-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889030
18.
Proteomic analyses identify a diverse array of nuclear processes affected by small ubiquitin-like modifier conjugation in Arabidopsis.
Proc Natl Acad Sci U S A
; 107(38): 16512-7, 2010 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20813957
19.
Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism.
Cell Rep
; 42(10): 113241, 2023 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37819759
20.
A clinically validated method to separate and quantify underivatized acylcarnitines and carnitine metabolic intermediates using mixed-mode chromatography with tandem mass spectrometry.
J Chromatogr A
; 1663: 462749, 2022 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954532