Detalhe da pesquisa
1.
Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data.
Mol Genet Metab
; 141(3): 108122, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38184920
2.
Nutrition status of adults with phenylketonuria treated with pegvaliase.
Mol Genet Metab
; 133(4): 345-351, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34116943
3.
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Genet Med
; 21(8): 1851-1867, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30546086
4.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Mol Genet Metab
; 127(1): 1-11, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31103398
5.
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
Mol Genet Metab
; 125(3): 228-234, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30266197
6.
Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria.
J Nutr
; 148(2): 194-201, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29490096
7.
Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.
Mol Genet Metab
; 121(2): 96-103, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28400091
8.
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
Genet Med
; 16(2): 121-31, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24385075
9.
Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study.
Mol Genet Metab Rep
; 37: 101015, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38053931
10.
Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations.
Orphanet J Rare Dis
; 18(1): 155, 2023 Jun 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37349772
11.
Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.
Nutrients
; 15(18)2023 Sep 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37764724
12.
Role of medical food in MMA.
Genet Med
; 18(4): 413-4, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26963282
13.
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase.
Mol Genet Metab Rep
; 28: 100771, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34094869
14.
Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.
Nutrients
; 12(10)2020 Oct 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33081139
15.
Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians.
JIMD Rep
; 53(1): 83-89, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32395413
16.
Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria.
Data Brief
; 13: 377-384, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28664173
17.
Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.
Mol Genet Metab Rep
; 22: 100555, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31956506
18.
The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders.
J Eval Clin Pract
; 21(6): 1235-43, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26268585
19.
Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines.
J Eval Clin Pract
; 19(4): 584-90, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22168925
20.
Barriers to successful dietary control among pregnant women with phenylketonuria.
Genet Med
; 4(2): 84-9, 2002.
Artigo
Inglês
| MEDLINE | ID: mdl-11882785