Found: 12
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Retinal and optic nerve degeneration in α-mannosidosis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01264
- By:
- Publication type:
- Article
Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114669
- By:
- Publication type:
- Article
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0286-x
- By:
- Publication type:
- Article
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-35
- By:
- Publication type:
- Article
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1320, doi. 10.1172/JCI72835
- By:
- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1215, doi. 10.1007/s10545-018-0185-0
- By:
- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1215, doi. 10.1007/s10545-018-0185-0
- By:
- Publication type:
- Article
A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 9, p. 3040, doi. 10.1111/ene.14955
- By:
- Publication type:
- Article