Detalhe da pesquisa
1.
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria.
Mol Genet Metab
; 140(3): 107666, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549444
2.
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Int J Mol Sci
; 23(8)2022 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457240
3.
Clinical characterization of tremor in patients with phenylketonuria.
Mol Genet Metab
; 128(1-2): 53-56, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31208951
4.
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples.
Nutrients
; 12(10)2020 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022955
5.
Prebiotic Therapy with Inulin Associated with Low Protein Diet in Chronic Kidney Disease Patients: Evaluation of Nutritional, Cardiovascular and Psychocognitive Parameters.
Toxins (Basel)
; 12(6)2020 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32526852
6.
Sarcopenia and cardiovascular risk indices in patients with chronic kidney disease on conservative and replacement therapy.
Nutrition
; 62: 108-114, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30875540
7.
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels.
Orphanet J Rare Dis
; 14(1): 273, 2019 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31779649
8.
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.
Brain Dev
; 35(7): 675-80, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23177061