Detalhe da pesquisa
1.
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 628(8009): 872-877, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570682
2.
Publisher Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38844679
3.
Author Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 629(8011): E10, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649490
4.
Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.
Diabetes Obes Metab
; 26(3): 989-996, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38151964
5.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940383
6.
Arrhythmogenesis in Fabry Disease.
Curr Cardiol Rep
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607539
7.
Adipose tissue function and insulin sensitivity in syndromic obesity of Bardet-Biedl syndrome.
Int J Obes (Lond)
; 47(5): 382-390, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807608
8.
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Mol Genet Metab
; 138(2): 106963, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481125
9.
Medium-Term Outcomes in Severely to Critically Ill Patients With Severe Acute Respiratory Syndrome Coronavirus 2 Infection.
Clin Infect Dis
; 74(2): 301-308, 2022 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893486
10.
Lung function and breathing patterns in hospitalised COVID-19 survivors: a review of post-COVID-19 Clinics.
Respir Res
; 22(1): 255, 2021 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34579722
11.
Defining renal phenotype in Alström syndrome.
Nephrol Dial Transplant
; 35(6): 994-1001, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30307515
12.
Challenges in diagnosing and managing adult patients with urea cycle disorders.
J Inherit Metab Dis
; 42(6): 1136-1146, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932189
13.
Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5â¯years of treatment.
Mol Genet Metab
; 123(4): 479-487, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526614
14.
Language processing and executive functions in early treated adults with phenylketonuria (PKU).
Cogn Neuropsychol
; 35(3-4): 148-170, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29488825
15.
Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.
J Inherit Metab Dis
; 41(2): 239-247, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294190
16.
Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.
Europace
; 20(FI2): f153-f161, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29045633
17.
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.
BMC Endocr Disord
; 18(1): 88, 2018 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30477455
18.
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
Am J Med Genet A
; 173(2): 375-383, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27774754
19.
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Hum Mutat
; 37(2): 139-47, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499107
20.
Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome.
Liver Int
; 36(11): 1704-1712, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27178444