Detalhe da pesquisa
1.
Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.
Metabolomics
; 19(4): 29, 2023 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36988742
2.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
3.
L-carnitine supplementation in the recovery of plasma L-carnitine in patients with heart failure submitted to coronary artery bypass grafting.
An Acad Bras Cienc
; 90(3): 3099-3104, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304237
4.
Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS.
Anal Methods
; 15(32): 3932-3939, 2023 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37539791
5.
Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses.
Clin Chim Acta
; 541: 117250, 2023 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36764508
6.
Fumaric aciduria: an overview and the first Brazilian case report.
J Inherit Metab Dis
; 33(4): 411-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20549362
7.
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Mol Genet Metab Rep
; 12: 62-68, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649514
8.
Systematic analysis of glycerol: colourimetric screening and gas chromatography-mass spectrometric confirmation.
Drug Test Anal
; 7(10): 967-70, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26112364
9.
Plasma volume expanders: use in medicine and detecting misuse in sports.
Bioanalysis
; 3(2): 215-26, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21250849
10.
Screening for hydroxyethyl starch (HES) doping in sport.
J Sci Med Sport
; 13(1): 13-5, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18768354
11.
Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
Genet. mol. biol
; 29(3): 429-436, 2006. ilus
Artigo
em Inglês
| LILACS | ID: lil-450274