Detalhe da pesquisa
1.
Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Mol Genet Metab
; 123(4): 463-471, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478817
2.
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Mol Genet Metab
; 123(4): 441-448, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478820
3.
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Mol Genet Metab
; 121(2): 111-118, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28396157
4.
A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes.
Anal Biochem
; 528: 57-62, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28456637
5.
1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance.
Clin Lab
; 61(12): 1973-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26882824
6.
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.
Biochim Biophys Acta
; 1832(12): 2103-14, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23928362
7.
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Mol Genet Metab Rep
; 31: 100860, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782617
8.
Comparison of seizure reduction and serum fatty acid levels after receiving the ketogenic and modified Atkins diet.
Seizure
; 18(5): 359-64, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19196525
9.
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate ß-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Clin Chim Acta
; 471: 101-106, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28532786
10.
Relationship between posttrauma GABA plasma levels and PTSD at 1-year follow-up.
Am J Psychiatry
; 163(8): 1446-8, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16877663
11.
Creatine biosynthesis and transport in health and disease.
Biochimie
; 119: 146-65, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542286
12.
Low posttrauma GABA plasma levels as a predictive factor in the development of acute posttraumatic stress disorder.
Biol Psychiatry
; 55(3): 250-4, 2004 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14744465
13.
Mitochondrial dysfunction and lipid homeostasis.
Curr Drug Metab
; 13(10): 1388-400, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22978394
14.
A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.
JIMD Rep
; 6: 7-14, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430932
15.
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.
JIMD Rep
; 1: 37-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430825
16.
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Orphanet J Rare Dis
; 5: 26, 2010 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20923556
17.
Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.
Clin Chim Acta
; 406(1-2): 23-6, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19422814