Detalhe da pesquisa
1.
Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time.
Mol Genet Metab
; 137(1-2): 104-106, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964530
2.
Nutrition status of adults with phenylketonuria treated with pegvaliase.
Mol Genet Metab
; 133(4): 345-351, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34116943
3.
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab
; 129(1): 13-19, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836396
4.
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Genet Med
; 21(8): 1851-1867, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30546086
5.
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab
; 127(1): 64-73, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031081
6.
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
J Inherit Metab Dis
; 41(2): 197-208, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350350
7.
Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 118(3): 167-172, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27324284
8.
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.
Mol Genet Metab
; 110(3): 255-62, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24071436
9.
Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study.
Mol Genet Metab Rep
; 37: 101015, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053931
10.
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Mol Genet Metab
; 106(4): 430-8, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22728054
11.
Reinstitution of pegvaliase therapy during lactation.
Mol Genet Metab Rep
; 33: 100938, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36420422
12.
Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria.
J Inherit Metab Dis
; 34(4): 963-71, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21556836
13.
Warfarin knowledge in patients with atrial fibrillation: implications for safety, efficacy, and education strategies.
Cardiology
; 116(1): 61-9, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20502012
14.
First 1.5 years of pegvaliase clinic: Experiences and outcomes.
Mol Genet Metab Rep
; 24: 100603, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32489881
15.
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
JIMD Rep
; 31: 63-71, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27117294
16.
Phone-based motivational interviewing to increase self-efficacy in individuals with phenylketonuria.
Mol Genet Metab Rep
; 6: 27-33, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27014576
17.
Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.
Mol Genet Metab Rep
; 22: 100555, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31956506