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:

Dudesek, Ales;
Wittstock, Matthias;
Grossmann, Annette;
Meyer, Wolfgang;
Rolfs, Arndt

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:

Raiman, Julian A. J.;
Clarke, Joe T. R.

Publication type:

Article

Foreword.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 2, p. 41
Publication type:: Article