Detalhe da pesquisa
1.
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.
J Inherit Metab Dis
; 47(2): 280-288, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200664
2.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Mol Genet Metab
; 126(1): 43-52, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30470562
10.
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
11.
Identification of enzymes involved in oxidation of phenylbutyrate.
J Lipid Res
; 58(5): 955-961, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283530
12.
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
13.
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
14.
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
15.
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
16.
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
17.
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Mol Genet Metab
; 115(4): 168-73, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26163321
18.
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
19.
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Brain
; 137(Pt 11): 2903-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125611
20.
Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.
Biochim Biophys Acta
; 1832(6): 773-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23485643