(Q87924935)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24850378%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease (English)

1 reference

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18 March 2020

1 reference

Jean-Michel Itier

1

1 reference

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18 March 2020

Gwénaëlle Ret

2

1 reference

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18 March 2020

Sandra Viale

3

1 reference

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18 March 2020

Lindsay Sweet

4

1 reference

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18 March 2020

Dinesh Bangari

5

1 reference

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18 March 2020

Anne Caron

6

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18 March 2020

Françoise Le-Gall

7

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18 March 2020

Bernard Bénichou

8

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18 March 2020

John Leonard

9

1 reference

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18 March 2020

Jean-François Deleuze

10

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18 March 2020

Cécile Orsini

11

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18 March 2020

publication date

22 May 2014

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Journal of Inherited Metabolic Disease

18 March 2020

published in

1 reference

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18 March 2020

volume

37

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18 March 2020

issue

6

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18 March 2020

page(s)

1013-1022

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A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease

18 March 2020

cites work

1 reference

12 December 2020

Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

1 reference

12 December 2020

Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium.

1 reference

12 December 2020

Onset and progression of the Anderson-Fabry disease related cardiomyopathy.

1 reference

12 December 2020

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes

1 reference

12 December 2020

Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry.

1 reference

12 December 2020

The heart in Anderson Fabry disease

1 reference

12 December 2020

A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders.

1 reference

12 December 2020

Human cardiovascular progenitor cells develop from a KDR+ embryonic-stem-cell-derived population

1 reference

12 December 2020

Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

1 reference

12 December 2020

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

1 reference

12 December 2020

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

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12 December 2020

1 reference

12 December 2020

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

1 reference

12 December 2020

Natural history of Fabry disease in females in the Fabry Outcome Survey.

1 reference

12 December 2020

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

1 reference

12 December 2020

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

1 reference

12 December 2020

Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease

1 reference

12 December 2020

Agalsidase benefits renal histology in young patients with Fabry disease

1 reference

12 December 2020

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

1 reference

12 December 2020

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

1 reference

12 December 2020

Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease.

1 reference

12 December 2020

Cardiac involvement in Fabry disease

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12 December 2020

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

1 reference

12 December 2020

Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study

1 reference

12 December 2020

Images in cardiovascular medicine. Myocardial fibrosis in fabry disease demonstrated by multislice computed tomography: comparison with biopsy findings.

1 reference

12 December 2020

Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.

1 reference

12 December 2020

alpha-Galactosidase A deficient mice: a model of Fabry disease

1 reference

12 December 2020

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

1 reference

12 December 2020

10.1007/S10545-014-9724-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24850378%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

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