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1.
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.
Article
in English
| MEDLINE | ID: mdl-36194207
2.
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.
Article
in English
| MEDLINE | ID: mdl-34096670
3.
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
J Pediatr
; 215: 152-157.e3, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31761138
4.
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
J Inherit Metab Dis
; 41(6): 1215-1223, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29846843
5.
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
J Inherit Metab Dis
; 41(6): 1225-1233, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29725868
6.
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.
Mol Genet Metab Rep
; 32: 100900, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-36046391
7.
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.
Mol Genet Metab Rep
; 30: 100843, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-35242574
8.
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.
Mol Genet Metab Rep
; 23: 100586, 2020 Jun.
Article
in English
| MEDLINE | ID: mdl-32292699
9.
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients.
Front Immunol
; 10: 1264, 2019.
Article
in English
| MEDLINE | ID: mdl-31214199
10.
Retinal and optic nerve degeneration in α-mannosidosis.
Orphanet J Rare Dis
; 13(1): 88, 2018 06 01.
Article
in English
| MEDLINE | ID: mdl-29859105
11.
Acetyl-dl-leucine in Niemann-Pick type C: A case series.
Neurology
; 85(16): 1368-75, 2015 Oct 20.
Article
in English
| MEDLINE | ID: mdl-26400580
12.
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Orphanet J Rare Dis
; 10: 70, 2015 Jun 06.
Article
in English
| MEDLINE | ID: mdl-26048034
13.
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
PLoS One
; 9(12): e114669, 2014.
Article
in English
| MEDLINE | ID: mdl-25479233
14.
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
J Clin Invest
; 124(3): 1320-8, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24487591
15.
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Orphanet J Rare Dis
; 8: 35, 2013 Feb 22.
Article
in English
| MEDLINE | ID: mdl-23433426
16.
Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase)
J. inborn errors metab. screen
; 6: e180004, 2018. tab, graf
Article
in English
|
LILACS-Express
| ID: biblio-1090969
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