Detalhe da pesquisa
1.
Distinct immunometabolic signatures in circulating immune cells define disease outcome in acute-on-chronic liver failure.
Hepatology
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38761406
2.
Evidence for an alternative fatty acid desaturation pathway increasing cancer plasticity.
Nature
; 566(7744): 403-406, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30728499
3.
Spleen Stiffness-Based Algorithms Are Superior to Baveno VI Criteria to Rule Out Varices Needing Treatment in Patients With Advanced Chronic Liver Disease.
Am J Gastroenterol
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38502095
4.
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
J Inherit Metab Dis
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38659221
5.
Tacrolimus Drug Exposure Level and Smoking Are Modifiable Risk Factors for Early De Novo Malignancy After Liver Transplantation for Alcohol-Related Liver Disease.
Transpl Int
; 37: 12055, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38440132
6.
Quality of life of adult patients with hereditary fructose intolerance.
Mol Genet Metab
; 140(3): 107701, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37757598
7.
Utility and prognostic value of diagnosing MAFLD in patients undergoing liver transplantation for alcohol-related liver disease.
Clin Transplant
; 37(6): e14965, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36940254
8.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Am J Hum Genet
; 104(5): 835-846, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982613
9.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ann Neurol
; 90(6): 887-900, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652821
10.
Patents vs patients 1-0: The case of chenodeoxycholic acid.
J Inherit Metab Dis
; 45(2): 377-378, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599614
11.
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
J Inherit Metab Dis
; 45(6): 1151-1162, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053909
12.
EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.
J Inherit Metab Dis
; 45(6): 1163-1174, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36069414
13.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722880
14.
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype.
Eur Respir J
; 57(4)2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184117
15.
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Genet Med
; 23(4): 637-644, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244166
16.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32807972
17.
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
18.
Relationship between de novo lipogenesis and serum sex hormone binding globulin in humans.
Clin Endocrinol (Oxf)
; 95(1): 101-106, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715205
19.
Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease.
J Lipid Res
; 61(6): 830-839, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32291331
20.
Normal liver stiffness and influencing factors in healthy children: An individual participant data meta-analysis.
Liver Int
; 40(11): 2602-2611, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901449