Detalhe da pesquisa
1.
Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
J Inherit Metab Dis
; 47(1): 41-49, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880392
2.
Roux-en-Y gastric bypass induces hepatic transcriptomic signatures and plasma metabolite changes indicative of improved cholesterol homeostasis.
J Hepatol
; 79(4): 898-909, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230231
3.
Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing.
Hum Reprod
; 38(2): 266-276, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427016
4.
A Machine Learning Approach for the Prediction of Testicular Sperm Extraction in Nonobstructive Azoospermia: Algorithm Development and Validation Study.
J Med Internet Res
; 25: e44047, 2023 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342078
5.
Adrenal adaptation in potassium-depleted men: role of progesterone?
Nephrol Dial Transplant
; 35(11): 1901-1908, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31369102
6.
CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington's disease.
Brain
; 142(8): 2432-2450, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286142
7.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Genet Med
; 21(9): 2025-2035, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723320
8.
Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia.
Acta Neuropathol
; 138(5): 837-858, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31197505
9.
Membrane re-arrangements and rippled phase stabilisation by the cell penetrating peptide penetratin.
Biochim Biophys Acta
; 1858(11): 2584-2591, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27475297
10.
CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease.
Brain
; 139(Pt 3): 953-70, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912634
11.
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
J Inherit Metab Dis
; 39(5): 611-624, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27393412
12.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn
; 35(7): 675-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754886
13.
Exosomes participate in the alteration of muscle homeostasis during lipid-induced insulin resistance in mice.
Diabetologia
; 57(10): 2155-64, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25073444
14.
Machine learning approach to assess the association between anthropometric, metabolic, and nutritional status and semen parameters.
Asian J Androl
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38624205
15.
Effect of Stool Sampling on a Routine Clinical Method for the Quantification of Six Short Chain Fatty Acids in Stool Using Gas Chromatography-Mass Spectrometry.
Microorganisms
; 12(4)2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674773
16.
[Artificial intelligence: to a better predictive strategy for testicular sperm extraction outcome in azoospermia]. / Intelligence artificielle : vers une meilleure stratégie de prédiction du résultat de la biopsie testiculaire dans un contexte d'azoospermie.
Ann Biol Clin (Paris)
; 82(2)2024 05 06.
Artigo
em Francês
| MEDLINE | ID: mdl-38702888
17.
Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy.
Mol Ther Methods Clin Dev
; 32(2): 101248, 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38680552
18.
Prospective comparison of diagnostic tests for bile acid diarrhoea.
Aliment Pharmacol Ther
; 59(1): 39-50, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794830
19.
Perturbation and resilience of the gut microbiome up to 3 months after ß-lactams exposure in healthy volunteers suggest an important role of microbial ß-lactamases.
Microbiome
; 12(1): 50, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468305
20.
Adipocytes secretome from normal and tumor breast favor breast cancer invasion by metabolic reprogramming.
Clin Transl Oncol
; 25(5): 1389-1401, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520383