Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142628
2.
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Mol Genet Metab
; 139(3): 107612, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37245378
3.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Hum Mol Genet
; 29(9): 1426-1439, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202298
4.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Mol Genet Metab
; 132(1): 19-26, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388234
5.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
J Inherit Metab Dis
; 44(4): 847-856, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325055
6.
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
7.
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.
Mol Genet Metab
; 128(1-2): 92-101, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31439512
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326288
9.
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
Mol Genet Metab
; 125(3): 217-227, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146451
10.
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2â¯months to 2â¯years of age with urea cycle disorders.
Mol Genet Metab
; 125(3): 251-257, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30217721
11.
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Mol Genet Metab
; 124(1): 27-38, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29653686
12.
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
Am J Med Genet A
; 176(4): 945-950, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575629
13.
Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.
Pediatr Res
; 83(4): 889-896, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29278642
14.
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.
Mol Genet Metab
; 122(3): 46-53, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916119
15.
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Genet Med
; 17(7): 561-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25503497
16.
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Hepatology
; 57(6): 2171-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22961727
17.
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Mol Genet Metab Rep
; 39: 101084, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38694233
18.
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Nat Metab
; 5(10): 1685-1690, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37770764
19.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Genet Med
; 14(7): 648-55, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22766634
20.
TFAP2A mutations result in branchio-oculo-facial syndrome.
Am J Hum Genet
; 82(5): 1171-7, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18423521