Detalhe da pesquisa
1.
Update on the Porphyrias.
Annu Rev Med
; 75: 321-335, 2024 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37540847
2.
Dersimelagon in Erythropoietic Protoporphyrias.
N Engl J Med
; 388(15): 1376-1385, 2023 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37043653
3.
RNA interference therapy in acute hepatic porphyrias.
Blood
; 142(19): 1589-1599, 2023 11 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37027823
4.
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Gastroenterology
; 164(3): 484-491, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36642627
5.
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.
Liver Int
; 2024 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38618923
6.
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Am J Hematol
; 2024 Apr 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38686876
7.
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
N Engl J Med
; 382(24): 2289-2301, 2020 06 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32521132
8.
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
Mov Disord
; 38(5): 899-903, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36869417
9.
Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.
Liver Int
; 43(7): 1537-1547, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37222260
10.
Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.
J Am Acad Dermatol
; 89(6): 1227-1237, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36041558
11.
Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study.
J Hepatol
; 76(3): 577-587, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34774639
12.
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.
N Engl J Med
; 380(6): 549-558, 2019 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30726693
13.
The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system.
Mol Genet Metab
; 135(2): 115-121, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34412940
14.
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.
Mol Genet Metab
; 135(2): 154-162, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34972655
15.
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.
Hepatology
; 73(5): 1736-1746, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32681675
16.
Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease.
Mov Disord
; 37(2): 416-421, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34741486
17.
Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study.
Liver Int
; 42(1): 161-172, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34717041
18.
Dersimelagon in Erythropoietic Protoporphyrias. Reply.
N Engl J Med
; 388(26): 2492-2493, 2023 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37379151
19.
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Genet Med
; 23(1): 140-148, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32873934
20.
Porphyria attacks in prepubertal children and adolescents.
Mol Genet Metab
; 133(3): 242-249, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34083144