Works matching IS 14730901 AND DT 2008 AND VI 8 AND IP 1

Results: 44

Natural history of the respiratory involvement in Anderson-Fabry disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 38
Publication type:: Article

The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 38
Publication type:: Article

Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 37
Publication type:: Article

Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 36
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. 1, p. 36
Publication type:: Article

Clinical phenotype of lathosterolosis.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 35
Publication type:: Article

Structural analysis of obscurin gene in hypertrophic cardiomyopathy.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 35
Publication type:: Article

A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 35
Publication type:: Article

A familial form of conduction defect related to a mutation in the PRKAG2 gene.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 34
Publication type:: Article

Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM<sub>1</sub> gangliosidosis.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 34
Publication type:: Article

Sibling phenotype concordance in classical infantile Pompe disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 33
Publication type:: Article

Investigation and treatment of hypertrophic cardiomyopathy.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 33
Publication type:: Article

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 32
Publication type:: Article

Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologistsoncologists and an opportunity for early diagnosis and intervention.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 31
Publication type:: Article

Functional correction of CNS lesions in an MPS-IIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 31
Publication type:: Article

Lysosomal trafficking functions of mucolipin-1 in murine macrophages.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 30
Publication type:: Article

Intraparenchymal injections of acid sphingomyelinase results in regional correction of lysosomal storage pathology in the Niemann-Pick A mouse.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 30
Publication type:: Article

Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 29
Publication type:: Article

Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 29
Publication type:: Article

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 28
Publication type:: Article

[1] Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study/[2] Developmental outcomes in children with Hurler syndrome after stem cell transplantation.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 27
Publication type:: Article

Active site-specific chaperone therapy for Fabry disease. Yin and yang of enzyme inhibitors.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 26
Publication type:: Article

Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 26
Publication type:: Article

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 25
Publication type:: Article

Retinopathy in Danon disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 25
Publication type:: Article

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 24
Publication type:: Article

Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 24
Publication type:: Article

IEMs in adults.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 24
Publication type:: Article

Danon disease presenting with dilated cardiomyopathy and a complex phenotype.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 23
Publication type:: Article

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 23
Publication type:: Article

Peripheral neuropathy and inborn errors of metabolism in adults.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 22
Publication type:: Article

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 22
Publication type:: Article

Increased TNF-alpha production by peripheral blood mononuclear cells in patients with Krabbe's disease: effect of psychosine.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 21
Publication type:: Article

Temporal and spatial gait characteristics of children with Hurler syndrome after umbilical cord blood transplantation.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 20
Publication type:: Article

Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 20
Publication type:: Article

Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 19
Publication type:: Article

Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 18
Publication type:: Article

Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 18
Publication type:: Article

Production of recombinant β-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 17
Publication type:: Article

Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alfa in children and adolescents.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 17
Publication type:: Article

Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 16
Publication type:: Article

Enzyme Replacement Therapy for Anderson-Fabry Disease with α-Galactosidase A: Mechanism of Uptake of the Enzyme by Cells and the Subsequent Clinical Benefit.

Published in:

Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 8

By:

Feldt-Rasmussen, Ula;
Rasmussen, Åse Krogh

Publication type:

Article

Endocrine Disturbances in Patients with Anderson-Fabry Disease.

Published in:

Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 1

By:

Faggiano, Antongiulio;
Milone, Francesco;
Colao, Annamaria

Publication type:

Article

Foreword.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. IV
Publication type:: Article