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.
Natural history of urine and plasma oxalate in children with primary hyperoxaluria type 1.
Pediatr Nephrol
; 39(1): 141-148, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37458799
3.
Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial.
Am J Kidney Dis
; 81(2): 145-155.e1, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35843439
4.
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
5.
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children.
Genet Med
; 24(3): 654-662, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34906487
6.
Acute kidney injury risk-based screening in pediatric inpatients: a pragmatic randomized trial.
Pediatr Res
; 87(1): 118-124, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31454829
7.
Cicatricial Alopecia Research Foundation meeting, May 2016: Progress towards the diagnosis, treatment and cure of primary cicatricial alopecias.
Exp Dermatol
; 27(3): 302-310, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29341265
8.
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Am J Med Genet A
; 176(3): 692-698, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29388319
9.
Electronic health record-based predictive models for acute kidney injury screening in pediatric inpatients.
Pediatr Res
; 82(3): 465-473, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28486440
10.
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Lancet
; 386(10007): 1955-1963, 2015 Nov 14.
Artigo
Inglês
| MEDLINE | ID: mdl-26343839
11.
Acute Kidney Injury Incidence in Noncritically Ill Hospitalized Children, Adolescents, and Young Adults: A Retrospective Observational Study.
Am J Kidney Dis
; 67(3): 384-90, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26319754
12.
An evolutionary genomic approach to identify genes involved in human birth timing.
PLoS Genet
; 7(4): e1001365, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21533219
13.
Evidence of recent and ongoing admixture in the U.S. and influences on health and disparities.
Pac Symp Biocomput
; 29: 374-388, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38160293
14.
Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing.
Genet Med
; 15(5): 325-31, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23196672
15.
Opioid use after cardiac surgery in children with Down syndrome.
Pediatr Crit Care Med
; 14(9): 862-8, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23962833
16.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21948486
17.
Randomized Clinical Trial on the Long-Term Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1.
Kidney Int Rep
; 7(3): 494-506, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35257062
18.
PharmGKB summary: very important pharmacogene information for MT-RNR1.
Pharmacogenet Genomics
; 26(12): 558-567, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27654872
19.
Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.
BMC Med Genet
; 12: 92, 2011 Jul 08.
Artigo
Inglês
| MEDLINE | ID: mdl-21740577
20.
Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Pediatrics
; 147(1)2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33372121