International Events 2013.
- Published in:
- 2013
- Publication type:
- Calendar
Works matching IS 14730901 AND DT 2013 AND VI 11 AND IP 3
Results: 40
1
2
Alpha-synuclein induces lysosomal rupture and cathepsin dependent reactive oxygen species following endocytosis.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
3
Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
4
Vascular endothelial growth factor (VEGF-A) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
5
TFEB regulates lysosomal proteostasis.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
6
Cathepsin-mediated regulation of autophagy in saposin C deficiency.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
7
Recent developments in targeting protein misfolding diseases.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
8
Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
9
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
10
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
11
Screening of male dialysis patients for Fabry disease by plasma globotriaosylsphingosine.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
12
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
13
The p.L302P mutation in the lysosomal enzyme gene SMPD 1 is a risk factor for Parkinson disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
14
Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
15
Human leukocyte antigens and Gaucher disease/KIR genes and HLA class I ligands in Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
16
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia/Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
17
Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
18
Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
19
Computer assisted evaluation of retinal vessels tortuosity in Fabry disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
20
Multidimensional analysis of clinical symptoms in patients with Fabry's disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
21
Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
22
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
23
Relationship of sleep to pulmonary function in mucopolysaccharidosis II.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
24
Cost-effectiveness of enzyme replacement therapy for Fabry disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
25
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
- Published in:
- 2013
- By:
- Publication type:
- Opinion
26
Enzyme replacement therapy for Anderson-Fabry disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
27
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
28
Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
29
A revised home treatment algorithm for Fabry disease: influence of antibody formation.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
30
Enhanced sialylation and in vivo efficacy of recombinant human α-galactosidase through in vitro glycosylation.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
31
Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
32
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
33
Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
34
Altered innate function of plasmacytoid dendritic cells restored by enzyme replacement therapy in Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
35
Foreword.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 3, p. IV
- Publication type:
- Article
36
Cysteamine: an old drug with new potential.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
37
Gauchers disease - a reappraisal of hematopoietic stem cell transplantation.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
38
Migalastat HCI reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
39
Transition Services for Adolescents with Lysosomal Storage Disorders.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 3, p. 69
- By:
- Publication type:
- Article
40
Successful desensitization to imiglucerase of an adult patient diagnosed with type I Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion