Detalhe da pesquisa
1.
Management of phenylketonuria in European PKU centres remains heterogeneous.
Mol Genet Metab
; 141(1): 108120, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38159545
2.
Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals.
Mol Genet Metab
; 142(1): 108361, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38442492
3.
Casein glycomacropeptide in phenylketonuria: does it bring clinical benefit?
Curr Opin Clin Nutr Metab Care
; 27(1): 31-39, 2024 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38085662
4.
Casein glycomacropeptide in phenylketonuria: does it bring clinical benefit?
Curr Opin Clin Nutr Metab Care
; 2023 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38085643
5.
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Molecules
; 28(13)2023 Jun 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37446577
6.
Altered gut microbiome diversity and function in patients with propionic acidemia.
Mol Genet Metab
; 137(3): 308-322, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36274442
7.
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
8.
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
J Inherit Metab Dis
; 44(4): 903-915, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33634872
9.
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria.
Medicina (Kaunas)
; 57(2)2021 Feb 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33540566
10.
Phenylketonuria, co-morbidity, and ageing: A review.
J Inherit Metab Dis
; 43(2): 167-178, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31675115
11.
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
Nutr Res Rev
; 32(1): 70-78, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30284526
12.
Speed of processing and executive functions in adults with phenylketonuria: Quick in finding the word, but not the ladybird.
Cogn Neuropsychol
; 35(3-4): 171-198, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-28632427
13.
Language processing and executive functions in early treated adults with phenylketonuria (PKU).
Cogn Neuropsychol
; 35(3-4): 148-170, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29488825
14.
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.
Cogn Neuropsychol
; 35(3-4): 120-147, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29741470
15.
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.
J Inherit Metab Dis
; 41(2): 181-186, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29170874
16.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
J Inherit Metab Dis
; 40(2): 171-176, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27858262
17.
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Eur J Pediatr
; 175(2): 261-72, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26350228
18.
Weight Management in Phenylketonuria: What Should Be Monitored.
Ann Nutr Metab
; 68(1): 60-5, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26598928
19.
Reply to Jakovac; Severity of COVID-19 infection in patients with phenylketonuria: is vitamin D status protective?
Am J Physiol Endocrinol Metab
; 318(6): E890-E891, 2020 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32479158
20.
Management of adult patients with phenylketonuria: survey results from 24 countries.
Eur J Pediatr
; 174(1): 119-27, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25480112