Works matching IS 14730901 AND DT 2008 AND VI 8 AND IP 2
Results: 37
The clinical outcome of Hurler syndrome after stem cell transplantation.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 79
- Publication type:
- Article
Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 78
- Publication type:
- Article
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 78
- Publication type:
- Article
Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 77
- Publication type:
- Article
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 76
- Publication type:
- Article
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 76
- Publication type:
- Article
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 75
- Publication type:
- Article
Carrier frequency of autosomalrecessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 75
- Publication type:
- Article
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 74
- Publication type:
- Article
Naked plasmid DNA-based alphagalactosidase A gene transfer partially reduces systemic accumulation of globotriaosylceramide in Fabry mice.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 74
- Publication type:
- Article
Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 73
- Publication type:
- Article
Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 73
- Publication type:
- Article
Genetic screening and counseling.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 72
- Publication type:
- Article
Elevated globotriaosylsphingosine is a hallmark of Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 71
- Publication type:
- Article
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 71
- Publication type:
- Article
Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 70
- Publication type:
- Article
Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 70
- Publication type:
- Article
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 69
- Publication type:
- Article
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 69
- Publication type:
- Article
Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 68
- Publication type:
- Article
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, doubleblind, placebo-controlled clinical trial of agalsidase alfa.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 68
- Publication type:
- Article
Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 67
- Publication type:
- Article
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 66
- Publication type:
- Article
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 66
- Publication type:
- Article
Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 65
- Publication type:
- Article
53-year-old man with rapid cognitive decline.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 65
- Publication type:
- Article
Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 64
- Publication type:
- Article
Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 63
- Publication type:
- Article
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 63
- Publication type:
- Article
Inherited metabolic disease of the liver.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 62
- Publication type:
- Article
Neuropathic symptoms and findings in women with Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 62
- Publication type:
- Article
Misleading terms in Anderson-Fabry disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 61
- Publication type:
- Article
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 60
- Publication type:
- Article
Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe disease): ultrastructural study.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 60
- Publication type:
- Article
Pathophysiological Aspects of Neurovascular Involvement in Anderson-Fabry Disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 47
- By:
- Publication type:
- Article
Existing Diagnostic Dilemmas in Anderson-Fabry Disease and Advances Toward Their Solution.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 41
- By:
- Publication type:
- Article
Foreword.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 41
- Publication type:
- Article