Detalhe da pesquisa
1.
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
N Engl J Med
; 384(13): 1216-1226, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33789010
2.
PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2.
Kidney Int
; 103(1): 207-217, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36007597
3.
Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial.
Pediatr Nephrol
; 38(4): 1075-1086, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35913563
4.
Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria.
Kidney Int
; 101(3): 626-634, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34481803
5.
The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants.
Pediatr Nephrol
; 37(4): 907-911, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35015123
6.
Catabolism of Hydroxyproline in Vertebrates: Physiology, Evolution, Genetic Diseases and New siRNA Approach for Treatment.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35055190
7.
Recovery From Dialysis in Patients With Primary Hyperoxaluria Type 1 Treated With Pyridoxine: A Report of 3 Cases.
Am J Kidney Dis
; 77(5): 816-819, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32891627
8.
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Mol Genet Metab
; 131(1-2): 171-180, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32792227
9.
Stiripentol identifies a therapeutic target to reduce oxaluria.
Curr Opin Nephrol Hypertens
; 29(4): 394-399, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32452916
10.
Stiripentol fails to lower plasma oxalate in a dialysis-dependent PH1 patient.
Pediatr Nephrol
; 35(9): 1787-1789, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32418144
11.
Glycolate oxidase inhibition by lumasiran varies between patients with primary hyperoxaluria type 1.
Kidney Int
; 103(5): 990-993, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36871948
12.
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6.
J Inherit Metab Dis
; 41(2): 263-275, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29110180
13.
Efficacy of Hydroxy-L-proline (HYP) analogs in the treatment of primary hyperoxaluria in Drosophila Melanogaster.
BMC Nephrol
; 19(1): 167, 2018 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29980178
14.
Type 1 primary hyperoxaluria: A case report and focus on bone impairment of systemic oxalosis.
Morphologie
; 102(336): 48-53, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29102553
15.
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
Hum Mol Genet
; 24(19): 5500-11, 2015 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26199318
16.
End Points for Clinical Trials in Hyperoxaluria: Case Study of Patient-Focused Drug Development in a Rare Disease.
Am J Kidney Dis
; 79(5): 754-756, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34634431
17.
Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I.
Mol Ther
; 24(4): 719-25, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26689264
18.
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I.
Nanomedicine
; 13(3): 897-907, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27993722
19.
Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria.
Biochem J
; 466(2): 273-81, 2015 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25697095
20.
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.
Biochim Biophys Acta
; 1832(10): 1776-83, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23597595