Detalhe da pesquisa
1.
Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria.
Brain
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723047
2.
Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.
Hum Mol Genet
; 31(6): 914-928, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34617103
3.
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.
J Inherit Metab Dis
; 45(2): 235-247, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34671989
4.
Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria.
J Inherit Metab Dis
; 45(6): 1082-1093, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36117142
5.
Fructose- and sucrose- but not glucose-sweetened beverages promote hepatic de novo lipogenesis: A randomized controlled trial.
J Hepatol
; 75(1): 46-54, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33684506
6.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595124
7.
Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.
Mol Genet Metab
; 126(4): 355-361, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30846352
8.
Liver neoplasms in methylmalonic aciduria: An emerging complication.
J Inherit Metab Dis
; 42(5): 793-802, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260114
9.
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.
Mol Genet Metab
; 125(1-2): 73-78, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30037504
10.
Islet transplantation as safe and efficacious method to restore glycemic control and to avoid severe hypoglycemia after donor organ failure in pancreas transplantation.
Clin Transplant
; 32(1)2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29140547
11.
[Gaucher's disease - an overview about a sphingolipidosis]. / Morbus Gaucher ein Überblick über eine Sphingolipidose.
Ther Umsch
; 75(4): 209-214, 2018 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-30468119
12.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
J Inherit Metab Dis
; 40(1): 49-74, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27778219
13.
Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria.
Ann Nutr Metab
; 71(3-4): 129-135, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28848183
14.
Hepatic glycogen storage disorders: what have we learned in recent years?
Curr Opin Clin Nutr Metab Care
; 18(4): 415-21, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26001652
15.
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study.
J Inherit Metab Dis
; 38(6): 1093-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109257
16.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
J Inherit Metab Dis
; 37(1): 21-30, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23780642
17.
Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial.
Am J Clin Nutr
; 119(4): 908-916, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569786
18.
Cerebral blood flow and white matter alterations in adults with phenylketonuria.
Neuroimage Clin
; 41: 103550, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091797
19.
Compromised white matter is related to lower cognitive performance in adults with phenylketonuria.
Brain Commun
; 5(3): fcad155, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37265600
20.
Health-related quality of life in a european sample of adults with early-treated classical PKU.
Orphanet J Rare Dis
; 18(1): 300, 2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740225