A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects. (Q44110520)

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25 February 2020

title

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects (English)

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25 February 2020

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4

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25 February 2020

Dominique P Germain

3

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25 February 2020

Daniel-G. Bichet

5

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25 February 2020

Alexander Bragat

7

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25 February 2020

1

R Giugliani

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25 February 2020

author name string

S Waldek

2

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25 February 2020

J K Simosky

6

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25 February 2020

J P Castelli

8

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25 February 2020

E R Benjamin

9

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25 February 2020

P F Boudes

10

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25 February 2020

publication date

26 January 2013

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Molecular Genetics and Metabolism

25 February 2020

published in

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25 February 2020

volume

109

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25 February 2020

page(s)

86-92

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25 February 2020

issue

1

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Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

25 February 2020

cites work

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Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

7 January 2021

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Gene action in the X-chromosome of the mouse (Mus musculus L.)

7 January 2021

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Screening for pharmacological chaperones in Fabry disease

7 January 2021

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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease

7 January 2021

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Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy

7 January 2021

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Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

7 January 2021

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Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

7 January 2021

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Novel quantitative method to evaluate globotriaosylceramide inclusions in renal peritubular capillaries by virtual microscopy in patients with fabry disease.

7 January 2021

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

7 January 2021

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

7 January 2021

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Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

7 January 2021

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Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

7 January 2021

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Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

7 January 2021

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