Detalhe da pesquisa
1.
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
J Inherit Metab Dis
; 45(3): 445-455, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174513
2.
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
J Inherit Metab Dis
; 45(4): 819-831, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35403730
3.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239752
4.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mol Genet Metab
; 129(3): 171-176, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31954591
5.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Brain
; 142(11): 3382-3397, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31637422
6.
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Hum Mutat
; 40(10): 1899-1904, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187905
7.
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
J Inherit Metab Dis
; 42(5): 878-889, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268564
8.
Identification of enzymes involved in oxidation of phenylbutyrate.
J Lipid Res
; 58(5): 955-961, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283530
9.
Monocarboxylate transporter 1 deficiency and ketone utilization.
N Engl J Med
; 371(20): 1900-7, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390740
10.
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(12): 2467, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34667295
11.
A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.
Mol Genet Metab
; 119(4): 307-310, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27771289
12.
Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects.
Hum Mol Genet
; 22(25): 5249-61, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23933733
13.
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
Genet Med
; 17(12): 989-94, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834949
14.
Identification and characterization of Eci3, a murine kidney-specific Δ3,Δ2-enoyl-CoA isomerase.
FASEB J
; 28(3): 1365-74, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24344334
15.
Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia.
J Pediatr
; 158(3): 458-62, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20884007
16.
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway.
Drug Metab Dispos
; 39(7): 1155-60, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21430231
17.
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.
J Inherit Metab Dis
; 34(2): 465-75, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21170680
18.
Mitochondrial long chain fatty acid beta-oxidation in man and mouse.
Biochim Biophys Acta
; 1791(8): 806-15, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19465148
19.
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.
J Inherit Metab Dis
; 33(5): 479-94, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20490924
20.
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
J Inherit Metab Dis
; 33(3): 211-22, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20443061