International Events 2013.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 68
- Publication type:
- Article
Works matching IS 14730901 AND DT 2013 AND VI 11 AND IP 2
Results: 41
1
2
Lysosomal Storage Disorders: A Practical Guide.
- Published in:
- 2013
- By:
- Publication type:
- Book Review
3
Intracisternal enzyme replacement therapy in lysosomal storage diseases: dispersal pathways, regional enzyme concentrations and the effect of post-treatment posture.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 38
- By:
- Publication type:
- Article
4
Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) data.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 65
- By:
- Publication type:
- Article
5
Agalsidase benefits renal histology in young patients with Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 64
- By:
- Publication type:
- Article
6
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 63
- By:
- Publication type:
- Article
7
Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 62
- By:
- Publication type:
- Article
8
Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation, and age-dependent sensorimotor deficits.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 61
- By:
- Publication type:
- Article
9
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 61
- By:
- Publication type:
- Article
10
Upregulation of inward rectifying currents and Fabry disease neuropathy.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 60
- By:
- Publication type:
- Article
11
Possible role of transforming growth factor-β1 and vascular endothelial growth factor in Fabry disease neuropathy.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 60
- By:
- Publication type:
- Article
12
FIG4 deficiency: a newly emerged lysosomal storage disorder?
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 59
- By:
- Publication type:
- Article
13
Abnormal properties of red blood cells suggest a role in pathophysiology of Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 58
- By:
- Publication type:
- Article
14
Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 58
- By:
- Publication type:
- Article
15
Gammopathy and B lymphocyte clonality in patients with Gaucher type I disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 57
- By:
- Publication type:
- Article
16
[1] Sensitivity to lysosome-dependent cell death is directly regulated by lysosomal cholesterol content/[2] Cyclodextrin mediates rapid changes in lipid balance in Npc1–/–mice without carrying cholesterol through the bloodstream.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 56
- By:
- Publication type:
- Article
17
Zurich Fabry study – prevalence of Fabry disease in young patients with first cryptogenicischaemic stroke or TIA.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 56
- By:
- Publication type:
- Article
18
Fabry disease in unselected patients with TIA or stroke: population-based study.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 55
- By:
- Publication type:
- Article
19
Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 54
- By:
- Publication type:
- Article
20
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 54
- By:
- Publication type:
- Article
21
Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 53
- By:
- Publication type:
- Article
22
Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 52
- By:
- Publication type:
- Article
23
Death rates in the US due to Krabbe disease and related leukodystrophy and lysosomal storage diseases.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 52
- By:
- Publication type:
- Article
24
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two Phase 2 clinical studies.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 51
- By:
- Publication type:
- Article
25
Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 50
- By:
- Publication type:
- Article
26
Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 50
- By:
- Publication type:
- Article
27
Evaluation of miglustat as maintenance therapy after enzyme therapy on adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 49
- By:
- Publication type:
- Article
28
Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 49
- By:
- Publication type:
- Article
29
Pilot study using ambroxol as a pharmacologic chaperone in type 1 Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 48
- By:
- Publication type:
- Article
30
LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 47
- By:
- Publication type:
- Article
31
Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with Anderson–Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 47
- By:
- Publication type:
- Article
32
Mutation identification of Fabry disease in families with other lysosomal storage disorders.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 46
- By:
- Publication type:
- Article
33
Does galactocerebrosidase activity predict Krabbe phenotype?
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 46
- By:
- Publication type:
- Article
34
Experiences of parents and patients with the timing of mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 45
- By:
- Publication type:
- Article
35
Computer assisted evaluation of retinal vessels tortuosity in Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 45
- By:
- Publication type:
- Article
36
Non-invasive determination of myocardial lipid content in Fabry disease by ¹H-MR spectroscopy.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 44
- By:
- Publication type:
- Article
37
A disease severity scoring system for children with type 1 Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 44
- By:
- Publication type:
- Article
38
Alpha-galactosidase A activity levels in Turkish male hemodialysis patients.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 43
- By:
- Publication type:
- Article
39
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with Fabry disease later-onset GLA IVS 4+919G>A.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 43
- By:
- Publication type:
- Article
40
Treating Lysosomal Storage Diseases that Affect the Central Nervous System: Overcoming the Blood_Brain Barrier.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 33
- By:
- Publication type:
- Article
41
Foreword.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 32
- Publication type:
- Article