Detalhe da pesquisa
1.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
N Engl J Med
; 390(5): 421-431, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38294974
2.
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.
Brain
; 146(2): 461-474, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256599
3.
Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic.
Z Gastroenterol
; 61(4): 375-380, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37040780
4.
Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.
Genet Med
; 24(12): 2434-2443, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36194207
5.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med
; 24(7): 1425-1436, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471153
6.
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.
Mol Genet Metab
; 133(4): 335-344, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229967
7.
Quantitative retrospective natural history modeling for orphan drug development.
J Inherit Metab Dis
; 44(1): 99-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845020
8.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
J Inherit Metab Dis
; 44(6): 1463-1480, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418116
9.
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.
Eur J Neurol
; 28(9): 3040-3050, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34096670
10.
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.
Mol Genet Metab
; 130(1): 27-35, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222271
11.
The definition of neuronopathic Gaucher disease.
J Inherit Metab Dis
; 43(5): 1056-1059, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242941
12.
Diagnosis and Care of Infants and Children with Pompe Disease.
Klin Padiatr
; 2020 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32069498
13.
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Mol Genet Metab
; 126(2): 98-105, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514648
14.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414226
15.
Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1.
Klin Padiatr
; 231(2): 52-59, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481833
16.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
N Engl J Med
; 373(11): 1010-20, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352813
17.
Lysosomal acid lipase deficiency: Expanding differential diagnosis.
Mol Genet Metab
; 120(1-2): 62-66, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27876313
18.
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.
Mol Genet Metab
; 120(3): 180-189, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27993458
19.
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.
Mol Genet Metab
; 122(3): 122-129, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28847676
20.
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