Detalles de la búsqueda
1.
Complete correction of murine phenylketonuria by selection-enhanced hepatocyte transplantation.
Hepatology
; 79(5): 1088-1097, 2024 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37824086
2.
Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.
Genet Med
; 26(6): 101123, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38501492
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38184920
4.
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
Mol Genet Metab
; 141(1): 108114, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38142628
5.
State-of-the-art 2023 on gene therapy for phenylketonuria.
J Inherit Metab Dis
; 47(1): 80-92, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37401651
6.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
J Inherit Metab Dis
; 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38623632
7.
Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs).
Mol Genet Metab
; 138(3): 107519, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36696737
8.
Biochemical and behavioural profile of NTBC treated Tyrosinemie type 1 mice.
Mol Genet Metab
; 137(1-2): 9-17, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35868243
9.
Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice.
Mol Genet Metab
; 136(1): 46-64, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35339387
10.
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Mol Genet Metab
; 137(1-2): 114-126, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36027720
11.
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.
Mol Genet Metab
; 131(1-2): 90-97, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32928639
12.
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.
Mol Genet Metab
; 131(3): 306-315, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33051130
13.
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.
Mol Genet Metab
; 130(4): 239-246, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32593547
14.
Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride.
J Inherit Metab Dis
; 43(6): 1232-1242, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33448436
15.
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Genet Med
; 21(8): 1851-1867, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30546086
16.
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.
Mol Genet Metab
; 128(1-2): 92-101, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31439512
17.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab
; 127(4): 336-345, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31326288
18.
Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long-chain fatty acid oxidation disorders.
J Inherit Metab Dis
; 42(5): 857-869, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31295363
19.
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(6): 100831, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37031408
20.
Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice.
Mol Genet Metab
; 123(1): 6-20, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29331172