(Q34584825)

3 August 2017

1 reference

title

Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases (English)

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3 August 2017

2

Alicja Wegrzyn

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3 August 2017

3

Grzegorz Wegrzyn

1 reference

Joanna Jakóbkiewicz-Banecka

3 August 2017

series ordinal

1

object named as

Joanna Jakóbkiewicz-Banecka

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3 August 2017

publication date

1 January 2007

1 reference

Journal of Applied Genetics

3 August 2017

published in

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3 August 2017

volume

48

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3 August 2017

issue

4

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3 August 2017

page(s)

383-388

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https://scigraph.springernature.com/pub.10.1007/bf03195237

3 August 2017

exact match

0 references

cites work

Substrate reduction therapy of glycosphingolipid storage disorders.

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Neural stem cell implantation extends life in Niemann-Pick C1 mice

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

Gaucher disease: multiple lessons from a single gene disorder

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

Enzyme replacement for lysosomal diseases

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03195237

Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03195237

Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03195237

Reversibility of cellular and organ pathology in enzyme replacement trials in animal models of lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03195237

Animal models for mucopolysaccharidosis disorders and their clinical relevance

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

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/10.1007%2FBF03195237

Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

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/10.1007%2FBF03195237

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

21 January 2018

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Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03195237

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03195237

Substrate reduction therapy in mouse models of the glycosphingolipidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03195237

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03195237

Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.

21 January 2018

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The pathophysiology and mechanisms of NP-C disease.

21 January 2018

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

21 January 2018

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The dog genome map and its use in mammalian comparative genomics.

21 January 2018

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12 December 2020

Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I

1 reference

12 December 2020

A first therapy for Niemann-Pick C

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12 December 2020

Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination

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12 December 2020

Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA.

1 reference

12 December 2020

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review

1 reference

12 December 2020

Are animal models useful for understanding the pathophysiology of lysosomal storage disease?

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF03195237

1 reference

3 August 2017

1 reference