(Q37765901)

22 August 2017

1 reference

title

Emerging drugs for lysosomal storage diseases (English)

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22 August 2017

Michael Beck

1

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22 August 2017

language of work or name

English

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publication date

1 September 2010

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Expert Opinion on Emerging Drugs

22 August 2017

published in

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22 August 2017

volume

15

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22 August 2017

issue

3

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22 August 2017

page(s)

495-507

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A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site

22 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Lysosomal disorders: from storage to cellular damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Allogeneic blood SCT for children with Hurler's syndrome: results from the German multicenter approach MPS-HCT 2005.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Transplant outcomes in leukodystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Imiglucerase and its use for the treatment of Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Multidisciplinary management of Hunter syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Enzyme replacement therapy for murine hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Nanoparticulate systems for brain delivery of drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Epinephrine enhances lysosomal enzyme delivery across the blood brain barrier by up-regulation of the mannose 6-phosphate receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Genetic engineering of a bifunctional IgG fusion protein with iduronate-2-sulfatase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Stop-codon read-through for patients affected by a lysosomal storage disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Glycan antagonists and inhibitors: a fount for drug discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Characterization of gene-activated human acid- -glucosidase: Crystal structure, glycan composition, and internalization into macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728214.2010.498580

10.1517/14728214.2010.498580

21 January 2018

Identifiers

DOI

1 reference

22 August 2017

1 reference