(Q44844414)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

10

1 reference

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27 December 2019

Dominique P Germain

9

1 reference

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27 December 2019

author name string

C M Eng

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

J Fletcher

2

1 reference

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27 December 2019

W R Wilcox

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

S Waldek

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C R Scott

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

D O Sillence

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

F Breunig

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

J Charrow

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

M Banikazemi

11

1 reference

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27 December 2019

publication date

8 March 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347915%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

27 December 2019

published in

1 reference

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27 December 2019

volume

30

1 reference

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27 December 2019

issue

2

1 reference

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27 December 2019

page(s)

184-192

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-007-0521-2

27 December 2019

exact match

0 references

cites work

Fabry disease: impaired autonomic function.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0521-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0521-2

The Ocular Manifestations in Fabry's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0521-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0521-2

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

21 January 2018

1 reference

12 December 2020

Natural history and treatment of renal involvement in Fabry disease.

1 reference

12 December 2020

Gastrointestinal structure and function in Fabry's disease

1 reference

12 December 2020

Early renal changes in hemizygous and heterozygous patients with Fabry's disease

1 reference

12 December 2020

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

1 reference

12 December 2020

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

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

1 reference

12 December 2020

A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

1 reference

12 December 2020

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

1 reference

12 December 2020

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

1 reference

12 December 2020

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

1 reference

12 December 2020

Natural history of Fabry disease in males: preliminary observations.

1 reference

12 December 2020

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

1 reference

12 December 2020

The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients

1 reference

12 December 2020

Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

1 reference

12 December 2020

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

1 reference

12 December 2020

Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease

1 reference

12 December 2020

Patients with Fabry disease on dialysis in the United States

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

1 reference

12 December 2020

Anderson-Fabry disease in children and adolescents

1 reference

12 December 2020