Detalhe da pesquisa
1.
Evidence for an alternative fatty acid desaturation pathway increasing cancer plasticity.
Nature
; 566(7744): 403-406, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30728499
2.
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
Inglês
| MEDLINE | ID: mdl-38502095
3.
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
J Inherit Metab Dis
; 2024 Apr 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38659221
4.
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
Inglês
| MEDLINE | ID: mdl-38440132
5.
Quality of life of adult patients with hereditary fructose intolerance.
Mol Genet Metab
; 140(3): 107701, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37757598
6.
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
Inglês
| MEDLINE | ID: mdl-36940254
7.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Am J Hum Genet
; 104(5): 835-846, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30982613
8.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ann Neurol
; 90(6): 887-900, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34652821
9.
Patents vs patients 1-0: The case of chenodeoxycholic acid.
J Inherit Metab Dis
; 45(2): 377-378, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34599614
10.
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
J Inherit Metab Dis
; 45(6): 1151-1162, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36053909
11.
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
Inglês
| MEDLINE | ID: mdl-36069414
12.
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
Inglês
| MEDLINE | ID: mdl-35722880
13.
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype.
Eur Respir J
; 57(4)2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33184117
14.
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
Inglês
| MEDLINE | ID: mdl-33244166
15.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32807972
16.
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
Inglês
| MEDLINE | ID: mdl-33239752
17.
Relationship between de novo lipogenesis and serum sex hormone binding globulin in humans.
Clin Endocrinol (Oxf)
; 95(1): 101-106, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33715205
18.
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
Inglês
| MEDLINE | ID: mdl-32291331
19.
Normal liver stiffness and influencing factors in healthy children: An individual participant data meta-analysis.
Liver Int
; 40(11): 2602-2611, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32901449
20.
The Role of Brown Adipose Tissue in the Development and Treatment of Nonalcoholic Steatohepatitis: An Exploratory Gene Expression Study in Mice.
Horm Metab Res
; 52(12): 869-876, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33260239