(Q38211269)

31 August 2017

title

Treatment of lysosomal storage disorders: successes and challenges (English)

1 reference

31 August 2017

Carla E M Hollak

1

1 reference

31 August 2017

Frits A Wijburg

series ordinal

2

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31 August 2017

publication date

13 May 2014

1 reference

Journal of Inherited Metabolic Disease

31 August 2017

published in

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31 August 2017

volume

37

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31 August 2017

issue

4

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31 August 2017

page(s)

587-598

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-014-9718-3

31 August 2017

exact match

0 references

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model.

21 January 2018

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21 January 2018

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Fibrosis: a key feature of Fabry disease with potential therapeutic implications

21 January 2018

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Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher Disease who were never treated with enzyme replacement therapy

21 January 2018

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Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

21 January 2018

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21 January 2018

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Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9718-3

How I treat Gaucher disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9718-3

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

21 January 2018

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12 December 2020

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Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation

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12 December 2020

Mucopolysaccharidoses and mucolipidoses

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Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

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

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Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients

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12 December 2020

Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy

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Bone-marrow transplantation in Hurler's syndrome. Effect on skeletal development

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Management of neuronopathic Gaucher disease: revised recommendations

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12 December 2020

Enzyme replacement therapy for lysosomal storage diseases

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12 December 2020

Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients

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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

Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation

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12 December 2020

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

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12 December 2020

Genistein in Sanfilippo disease: a randomized controlled crossover trial

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12 December 2020

ELIGLUSTAT TARTRATE: Glucosylceramide Synthase Inhibitor Treatment of Type 1 Gaucher Disease

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12 December 2020

Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages

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12 December 2020

10.1007/S10545-014-9718-3

Identifiers

DOI

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/22p6z5u35zcw3ep4gewumdbwye

30 July 2022

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1012312383

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Fatcat ID

release_22p6z5u35zcw3ep4gewumdbwye

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Fatcat

https://api.fatcat.wiki/v0/release/22p6z5u35zcw3ep4gewumdbwye

30 July 2022

mapped directly with Wikidata item

https://api.fatcat.wiki/v0/release/22p6z5u35zcw3ep4gewumdbwye

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30 July 2022