(Q36646889)

15 August 2017

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title

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy (English)

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15 August 2017

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Michael Beck

1

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15 August 2017

language of work or name

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7 November 2006

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15 August 2017

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15 August 2017

volume

121

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15 August 2017

issue

1

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15 August 2017

page(s)

1-22

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https://scigraph.springernature.com/pub.10.1007/s00439-006-0280-4

15 August 2017

exact match

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cites work

Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis

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https://api.crossref.org/works/10.1007%2FS00439-006-0280-4

Response of Gaucher bone disease to enzyme replacement therapy

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

21 January 2018

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12 December 2020

Fabry disease: recent advances in enzyme replacement therapy

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12 December 2020

Pompe disease in infants and children

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12 December 2020

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

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12 December 2020

Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy

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12 December 2020

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

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12 December 2020

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

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12 December 2020

Fabry disease: overall effects of agalsidase alfa treatment

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12 December 2020

Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice

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12 December 2020

Pain and its treatment in outpatients with metastatic cancer

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12 December 2020

Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results

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12 December 2020

Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease.

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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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12 December 2020

Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I

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12 December 2020

Enzyme therapy for Gaucher disease: the first 5 years

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12 December 2020

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

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12 December 2020

AAV2-mediated CLN2 gene transfer to rodent and non-human primate brain results in long-term TPP-I expression compatible with therapy for LINCL.

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12 December 2020

Defining the pathway for Tat-mediated delivery of beta-glucuronidase in cultured cells and MPS VII mice.

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12 December 2020

Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis.

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12 December 2020

The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study

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12 December 2020

The biogenesis of lysosomes

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12 December 2020

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

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12 December 2020

Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis.

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12 December 2020

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

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12 December 2020

The tolerability and pharmacokinetics of N-butyl-deoxynojirimycin in patients with advanced HIV disease (ACTG 100). The AIDS Clinical Trials Group (ACTG) of the National Institute of Allergy and Infectious Diseases

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12 December 2020

Critical role for glycosphingolipids in Niemann-Pick disease type C.

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12 December 2020

Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease

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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

Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease

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12 December 2020

Treatment of Gaucher disease with an enzyme inhibitor

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12 December 2020

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

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12 December 2020

Genetic polymorphisms in molecules of innate immunity and susceptibility to infection with Wuchereria bancrofti in South India

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12 December 2020

Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation

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12 December 2020

Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs

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12 December 2020

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

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12 December 2020

Substrate reduction therapy in the infantile form of Tay-Sachs disease

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12 December 2020

Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors

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12 December 2020

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease

1 reference

12 December 2020

Individualization of long-term enzyme replacement therapy for Gaucher disease

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12 December 2020

Newborn screening for lysosomal storage disorders

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12 December 2020

Gene therapy of metachromatic leukodystrophy

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12 December 2020

The human chitotriosidase gene. Nature of inherited enzyme deficiency

1 reference

12 December 2020

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease

1 reference

12 December 2020

The safety and efficacy of combination N-butyl-deoxynojirimycin (SC-48334) and zidovudine in patients with HIV-1 infection and 200-500 CD4 cells/mm3.

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12 December 2020

Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector.

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12 December 2020

A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

1 reference

12 December 2020

Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow

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12 December 2020

Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells

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12 December 2020

Gene therapy for lysosomal storage diseases.

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12 December 2020

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

1 reference

12 December 2020

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

1 reference

12 December 2020

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

1 reference

12 December 2020

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

1 reference

12 December 2020

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

1 reference

12 December 2020

Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB

1 reference

12 December 2020

Gene therapy of the brain in the dog model of Hurler's syndrome.

1 reference

12 December 2020

Replacement Therapy for Inherited Enzyme Deficiency

1 reference

12 December 2020

Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease

1 reference

12 December 2020

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

1 reference

12 December 2020

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

1 reference

12 December 2020

Mannose 6-phosphate receptor independent targeting of lysosomal enzymes (a mini-review).

1 reference

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

1 reference

12 December 2020

Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts

1 reference

12 December 2020

Safety of direct administration of AAV2(CU)hCLN2, a candidate treatment for the central nervous system manifestations of late infantile neuronal ceroid lipofuscinosis, to the brain of rats and nonhuman primates

1 reference

12 December 2020

Niemann-Pick disease type C in adults

1 reference

12 December 2020

Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb.

1 reference

12 December 2020

Heparin cofactor II–thrombin complex in MPS I: A biomarker of MPS disease

1 reference

12 December 2020

Promoter trapping reveals significant differences in integration site selection between MLV and HIV vectors in primary hematopoietic cells

1 reference

12 December 2020

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome

1 reference

12 December 2020

The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase

1 reference

12 December 2020

Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta

1 reference

12 December 2020

Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration

1 reference

12 December 2020

Mannose 6-phosphate receptors: new twists in the tale

1 reference

12 December 2020

Pharmacological chaperones: potential treatment for conformational diseases.

1 reference

12 December 2020

Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources

1 reference

12 December 2020

A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency

1 reference

12 December 2020

Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease

1 reference

12 December 2020

Chitotriosidase deficiency in survivors of Candida sepsis

1 reference

12 December 2020

Quantitation of Mr 46000 and Mr 300000 mannose 6-phosphate receptors in human cells and tissues

1 reference

12 December 2020

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

1 reference

12 December 2020

Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA.

1 reference

12 December 2020

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

1 reference

12 December 2020

The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations

1 reference

12 December 2020

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry

1 reference

12 December 2020

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

1 reference

12 December 2020

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

1 reference

12 December 2020

Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models

1 reference

12 December 2020

The HIV Tat protein transduction domain improves the biodistribution of beta-glucuronidase expressed from recombinant viral vectors.

1 reference

12 December 2020

Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study

1 reference

12 December 2020

A step in the right direction: assessing exercise tolerance in cystic fibrosis.

1 reference

12 December 2020

Targeting lentiviral vector expression to hepatocytes limits transgene-specific immune response and establishes long-term expression of human antihemophilic factor IX in mice

1 reference

12 December 2020

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

1 reference

12 December 2020

The pathogenesis of glycosphingolipid storage disorders

1 reference

12 December 2020

Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

1 reference

12 December 2020

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

1 reference

12 December 2020

Gaucher disease: enzyme therapy in the acute neuronopathic variant

1 reference

12 December 2020

Lysosomal membrane proteins

1 reference

12 December 2020

A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder

1 reference

12 December 2020

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

1 reference

12 December 2020

Prevention of neuropathology in the mouse model of Hurler syndrome

1 reference

12 December 2020

Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

1 reference

12 December 2020

Mechanisms of glycosaminoglycan activation of the serpins in hemostasis

1 reference

12 December 2020

Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease.

1 reference

12 December 2020

Enzyme replacement therapy in the mouse model of Pompe disease

1 reference

12 December 2020

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

1 reference

12 December 2020

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

12 December 2020

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

1 reference

12 December 2020

Recent clinical progress in Gaucher disease

1 reference

12 December 2020

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

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

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

1 reference

12 December 2020

10.1007/S00439-006-0280-4

Identifiers

DOI

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15 August 2017

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