Works matching IS 14730901 AND DT 2007 AND VI 7 AND IP 2
Results: 34
Rheumatologic aspects of lysosomal storage diseases.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 59
- Publication type:
- Article
Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 59
- Publication type:
- Article
Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 59
- Publication type:
- Article
Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 58
- Publication type:
- Article
Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 58
- Publication type:
- Article
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 57
- Publication type:
- Article
From the laboratory bench to the patient's bedside: an update on clinical trials with mesenchymal stem cells.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 57
- Publication type:
- Article
New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 56
- Publication type:
- Article
Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 56
- Publication type:
- Article
The long-term international safety experience of imiglucerase therapy for Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 55
- Publication type:
- Article
Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 54
- Publication type:
- Article
Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 54
- Publication type:
- Article
Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 53
- Publication type:
- Article
4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 53
- Publication type:
- Article
Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 52
- Publication type:
- Article
Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 51
- Publication type:
- Article
Extracellular matrix turnover and disease severity in Anderson-Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 51
- Publication type:
- Article
Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 51
- Publication type:
- Article
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 50
- Publication type:
- Article
Retinopathy in Danon disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 50
- Publication type:
- Article
The natural history of Niemann-Pick disease type C in the UK.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 49
- Publication type:
- Article
Very low serum adiponectin levels inpatients with type 1 Gaucher disease without overt hyperglycemia.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 49
- Publication type:
- Article
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 48
- Publication type:
- Article
Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease?
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 47
- Publication type:
- Article
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 47
- Publication type:
- Article
Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 46
- Publication type:
- Article
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 46
- Publication type:
- Article
Decreased T2 signal in the thalami maybe a sign of lysosomal storage disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 45
- Publication type:
- Article
S-MRI score: a simple method for assessing bone marrow involvement in Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 44
- Publication type:
- Article
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis type I.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 44
- Publication type:
- Article
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 43
- Publication type:
- Article
Anderson-Fabry Disease in Heterozygous Females.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 39
- By:
- Publication type:
- Article
Use of Small Molecules for the Treatment of Lysosomal Storage Diseases.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 33
- By:
- Publication type:
- Article
Foreword.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. IV
- Publication type:
- Article