Detalhe da pesquisa
1.
Advances in methods to analyse cardiolipin and their clinical applications.
Trends Analyt Chem
; 157: 116808, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36751553
2.
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Brain
; 144(8): 2443-2456, 2021 09 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33734312
3.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31187503
4.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32472658
5.
Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells.
Int J Mol Sci
; 20(18)2019 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31491876
6.
The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.
Biochim Biophys Acta
; 1864(6): 676-682, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-26994895
7.
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Anal Chem
; 89(17): 8892-8900, 2017 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28782931
8.
An examination of biochemical parameters and their association with response to ketogenic dietary therapies.
Epilepsia
; 58(5): 893-900, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28369834
9.
Neuronal decanoic acid oxidation is markedly lower than that of octanoic acid: A mechanistic insight into the medium-chain triglyceride ketogenic diet.
Epilepsia
; 58(8): 1423-1429, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28682459
10.
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.
J Inherit Metab Dis
; 39(3): 415-426, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27080638
11.
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
J Inherit Metab Dis
; 38(2): 279-86, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25112388
12.
The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells.
J Neurochem
; 129(3): 426-33, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24383952
13.
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Ann Neurol
; 72(3): 455-63, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23034917
14.
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis.
J Inherit Metab Dis
; 36(5): 741-6, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23109063
15.
Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard.
Rapid Commun Mass Spectrom
; 27(9): 924-30, 2013 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23592193
16.
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.
Lancet Neurol
; 22(12): 1113-1124, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37977712
17.
An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.
Mov Disord
; 26(5): 905-9, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21287604
18.
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
J Inherit Metab Dis
; 39(1): 151, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26373950
19.
K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy.
Brain Commun
; 3(4): fcab160, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34729477
20.
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
Sci Transl Med
; 13(594)2021 05 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34011628