(Q34585137)

3 August 2017

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title

New prospects for the treatment of lysosomal storage diseases (English)

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3 August 2017

Raphael Schiffmann

1

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3 August 2017

Roscoe O Brady

series ordinal

2

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3 August 2017

publication date

1 January 2002

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3 August 2017

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3 August 2017

volume

62

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3 August 2017

issue

5

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3 August 2017

page(s)

733-742

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https://scigraph.springernature.com/pub.10.2165/00003495-200262050-00002

3 August 2017

exact match

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cites work

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

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Gaucher's disease: clinical features and natural history

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12 December 2020

Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease

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Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood

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12 December 2020

Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice

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12 December 2020

In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice

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12 December 2020

Substrate reduction therapy for glycosphingolipid storage disorders

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12 December 2020

Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.

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Umbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

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12 December 2020

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

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Enzymatic Defect in Fabry's Disease

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Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk

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Withdrawal of enzyme replacement therapy in Gaucher's disease

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12 December 2020

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

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12 December 2020

Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy

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12 December 2020

Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

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12 December 2020

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

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12 December 2020

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

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12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

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Ten years' experience of bone marrow transplantation for Gaucher disease.

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Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

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Retrovirus-mediated transfer of the human alpha-L-iduronidase cDNA into human hematopoietic progenitor cells leads to correction in trans of Hurler fibroblasts

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12 December 2020

Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.

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12 December 2020

Engraftment of genetically engineered amniotic epithelial cells corrects lysosomal storage in multiple areas of the brain in mucopolysaccharidosis type VII mice

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Recommendations for diagnosis, evaluation, and monitoring of patients with Gaucher disease

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Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

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12 December 2020

The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.

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N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo

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12 December 2020

Aminohydroxy propylidene bisphosphonate (APD) treatment improves the clinical skeletal manifestations of Gaucher's disease

1 reference

12 December 2020

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

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12 December 2020

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

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12 December 2020

Lung involvement and enzyme replacement therapy in Gaucher's disease

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12 December 2020

A peptide carrier for the delivery of biologically active proteins into mammalian cells.

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12 December 2020

Prevalence of lysosomal storage disorders

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12 December 2020

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

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Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

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12 December 2020

Recent developments in retroviral gene delivery systems

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12 December 2020

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

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12 December 2020

Clinical features of and recent advances in therapy for Fabry disease

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12 December 2020

Gaucher's disease: studies of gene transfer to haematopoietic cells

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12 December 2020

Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation

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12 December 2020

Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI

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12 December 2020

Management of neuronopathic Gaucher disease: a European consensus.

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12 December 2020

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

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12 December 2020

Echocardiographic assessment of pulmonary hypertension in Gaucher's disease

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12 December 2020

Inhibition of glycosphingolipid biosynthesis does not impair growth or morphogenesis of the postimplantation mouse embryo

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12 December 2020

Lysosomal Storage Diseases

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12 December 2020

Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome).

1 reference

12 December 2020

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

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12 December 2020

Gaucher's disease: past, present and future

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12 December 2020

Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII.

1 reference

12 December 2020

A vital role for glycosphingolipid synthesis during development and differentiation

1 reference

12 December 2020

Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease.

1 reference

12 December 2020

Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up.

1 reference

12 December 2020

Neuronopathic forms of Gaucher's disease

1 reference

12 December 2020

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

12 December 2020

Agents for the treatment of glycosphingolipid storage disorders

1 reference

12 December 2020

Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy

1 reference

12 December 2020

Delivery, distribution, and neuronal uptake of exogenous mannose-terminal glucocerebrosidase in the intact rat brain.

1 reference

12 December 2020

Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease.

1 reference

12 December 2020

Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease.

1 reference

12 December 2020

Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S

1 reference

12 December 2020

10.2165/00003495-200262050-00002

Identifiers

DOI

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Dimensions Publication ID

3 August 2017

1053356257

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