Detalhe da pesquisa
1.
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.
J Inherit Metab Dis
; 45(1): 29-37, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382226
2.
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
J Lipid Res
; 58(5): 1002-1007, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28314860
3.
Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy.
Hum Mol Genet
; 23(12): 3250-68, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24463623
4.
Cerebrospinal fluid in tuberculous meningitis exhibits only the L-enantiomer of lactic acid.
BMC Infect Dis
; 16: 251, 2016 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27267176
5.
The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development.
Hum Mol Genet
; 21(21): 4732-50, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22859505
6.
Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.
J Biol Chem
; 286(2): 899-908, 2011 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21068380
7.
Inhibition of the isoprenoid biosynthesis pathway; detection of intermediates by UPLC-MS/MS.
Biochim Biophys Acta
; 1811(4): 227-33, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21237288
8.
Barth syndrome in a female patient.
Mol Genet Metab
; 106(1): 115-20, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22410210
9.
The effect of blood transfusion on pulmonary permeability in cardiac surgery patients: a prospective multicenter cohort study.
Transfusion
; 52(1): 82-90, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21745211
10.
The cellular and molecular mechanisms for neutropenia in Barth syndrome.
Eur J Haematol
; 88(3): 195-209, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22023389
11.
Peroxisomal alterations in Alzheimer's disease.
Acta Neuropathol
; 122(3): 271-83, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21594711
12.
The enigmatic role of tafazzin in cardiolipin metabolism.
Biochim Biophys Acta
; 1788(10): 2003-14, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19619503
13.
Supernatant of aged erythrocytes causes lung inflammation and coagulopathy in a "two-hit" in vivo syngeneic transfusion model.
Anesthesiology
; 113(1): 92-103, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20508493
14.
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.
Anal Biochem
; 387(2): 230-7, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19454236
15.
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.
J Clin Endocrinol Metab
; 93(12): 4894-901, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18765512
16.
Detection of nonsterol isoprenoids by HPLC-MS/MS.
Anal Biochem
; 383(1): 18-24, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18782552
17.
Quantitative analysis of the experimental cytotoxic drug cyclopentenyl cytosine and its metabolite in plasma with HPLC tandem mass spectrometry.
Biomed Chromatogr
; 22(12): 1368-73, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18661479
18.
Identification and characterization of human cardiolipin synthase.
FEBS Lett
; 580(13): 3059-64, 2006 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-16678169
19.
Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse.
Biochem J
; 387(Pt 1): 185-93, 2005 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15535801
20.
Postprandial Plasma Concentrations of Individual Bile Acids and FGF-19 in Patients With Type 2 Diabetes.
J Clin Endocrinol Metab
; 101(8): 3002-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27270475