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.
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- 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.
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- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 33
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- Article
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 25
- Publication type:
- Article
Retinopathy in Danon disease.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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:
- 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:
- Publication type:
- Article
Foreword.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. IV
- Publication type:
- Article