(Q37109614)

18 August 2017

1 reference

title

Substrate reduction therapy (English)

1 reference

18 August 2017

Frances M Platt

1

0 references

author name string

Mylvaganam Jeyakumar

series ordinal

2

1 reference

PubMed ID

18339196

18 August 2017

language of work or name

English

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publication date

1 April 2008

1 reference

18 August 2017

1 reference

18 August 2017

97

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18 August 2017

88-93

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18 August 2017

457

1 reference

Lysosomal storage diseases: natural history and ethical and economic aspects

18 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Lysosomal storage diseases in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Secondary accumulation of gangliosides in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Effective gene therapy in an authentic model of Tay-Sachs-related diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

The pathogenesis of glycosphingolipid storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Enzyme therapy for Gaucher disease: the first 5 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Fabry disease: overall effects of agalsidase alfa treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Treatment of Gaucher disease with an enzyme inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Pharmacotherapeutic strategies using small molecules for the treatment of glycolipid lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Targeting glycosylation as a therapeutic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Glycosylation inhibitors in biology and medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Miglustat has no apparent effect on spermatogenesis in normal men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

The pathophysiology and mechanisms of NP-C disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00656.X

10.1111/J.1651-2227.2008.00656.X

21 January 2018

Identifiers

DOI

1 reference

18 August 2017

1 reference

PubMed ID

18339196