Detalhe da pesquisa
1.
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.
Mol Genet Metab;
142(1): 108464, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38537426
2.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
J Inherit Metab Dis;
2024 Mar 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38433424
3.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet;
107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32668217
4.
Ex vivo proton spectroscopy (1 H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses.
NMR Biomed;
36(4): e4853, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36264537
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
em Inglês
| MEDLINE
| ID: mdl-37446577
6.
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
J Pediatr;
239: 231-234.e2, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34474089
7.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet;
100(2): 257-266, 2017 02 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28132689
8.
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Genet Med;
21(3): 580-590, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29997390
9.
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.
J Inherit Metab Dis;
42(3): 398-406, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30706953
10.
Caring for Ukrainian refugee children with acute and chronic diseases.
Lancet;
399(10336): 1689, 2022 04 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35421373
11.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis;
39(1): 115-24, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26025547
12.
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
em Inglês
| MEDLINE
| ID: mdl-26350228
13.
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.
Mol Genet Metab;
114(4): 564-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25726095
14.
Management of adult patients with phenylketonuria: survey results from 24 countries.
Eur J Pediatr;
174(1): 119-27, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25480112
15.
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
J Inherit Metab Dis;
37(5): 831-40, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24599607
16.
Is overweight an issue in phenylketonuria?
Mol Genet Metab;
110 Suppl: S18-24, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24055312
17.
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
Mol Genet Metab;
110(4): 418-23, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24090706
18.
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study.
Mol Genet Metab;
103(4): 315-22, 2011 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21646032
19.
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation.
Metabolites;
11(10)2021 Oct 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34677395
20.
Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data.
Mol Genet Metab Rep;
27: 100764, 2021 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34036045