Detalhe da pesquisa
1.
Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease.
J Sleep Res
; : e14153, 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499951
2.
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR.
J Inherit Metab Dis
; 47(2): 270-279, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084664
3.
Methods for Oxygen Determination in an NMR Bioreactor as a Surrogate Marker for Metabolomic Studies in Living Cell Cultures.
Anal Chem
; 95(48): 17486-17493, 2023 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37989262
4.
Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.
Hepatology
; 76(3): 646-659, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34786702
5.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
6.
Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage.
Cell Mol Life Sci
; 79(8): 445, 2022 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35877003
7.
How to Detect Isolated PEX10-Related Cerebellar Ataxia?
Neuropediatrics
; 53(3): 159-166, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038753
8.
Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR.
Int J Mol Sci
; 23(12)2022 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743000
9.
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Hum Mol Genet
; 28(4): 639-649, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358850
10.
Live monitoring of cellular metabolism and mitochondrial respiration in 3D cell culture system using NMR spectroscopy.
Analyst
; 146(13): 4326-4339, 2021 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106111
11.
Correction to: Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts.
Metabolomics
; 15(4): 49, 2019 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30891647
12.
Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts.
Metabolomics
; 15(3): 32, 2019 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30830487
13.
The histidine triad nucleotide-binding protein 2 (HINT-2) positively regulates hepatocellular energy metabolism.
FASEB J
; 32(9): 5143-5161, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29913563
14.
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
J Inherit Metab Dis
; 42(6): 1077-1087, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30907007
15.
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.
J Inherit Metab Dis
; 42(6): 1064-1076, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30714172
16.
A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.
J Inherit Metab Dis
; 42(6): 1054-1063, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30843237
17.
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
J Inherit Metab Dis
; 41(2): 169-180, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29238895
18.
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
Am J Med Genet A
; 173(1): 225-230, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683074
19.
Effects of silica nanoparticle exposure on mitochondrial function during neuronal differentiation.
J Nanobiotechnology
; 15(1): 49, 2017 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28676089
20.
[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]. / L'interniste face aux maladies rares: quand y penser? L'exemple des maladies mitochondriales.
Rev Med Suisse
; 13(546): 159-163, 2017 Jan 18.
Artigo
em Francês
| MEDLINE | ID: mdl-28703515