(Q37997470)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22452439%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease (English)

1 reference

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27 January 2020

1 reference

1 reference

4

1 reference

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27 January 2020

Anna Zampetti

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22452439%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Maria Gnarra

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22452439%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Aldo Morrone

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22452439%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Amelia Morrone

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22452439%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Giorgia Cardinali

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22452439%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Daniela Kovacs

10

1 reference

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27 January 2020

Claudio Feliciani

14

1 reference

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27 January 2020

author name string

C H Orteu

2

1 reference

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27 January 2020

D Antuzzi

3

1 reference

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27 January 2020

S Manco

5

1 reference

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27 January 2020

N Aspite

11

1 reference

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27 January 2020

D Linder

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22452439%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

R Parini

13

1 reference

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27 January 2020

Interdisciplinary Study Group on Fabry Disease (ISGF)

15

1 reference

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27 January 2020

language of work or name

English

0 references

publication date

1 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22452439%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

27 January 2020

published in

1 reference

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27 January 2020

volume

166

1 reference

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27 January 2020

issue

4

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27 January 2020

page(s)

712-720

1 reference

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High incidence of later-onset fabry disease revealed by newborn screening

27 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Anderson-Fabry disease and the heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Significance of screening for Fabry disease among male dialysis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Enzyme replacement therapy for Fabry disease: a systematic review of available evidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Agalsidase Beta: a review of its use in the management of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Molecular pathology of NEU1 gene in sialidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

[Angiokeratoma corporis diffusum without associated metabolic disorder]

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Angiokeratoma of the scrotum: a case of scrotal bleeding

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Angiokeratomas: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Angiokeratoma circumscriptum arranged in a systematized band-like pattern suggesting mosaicism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Eruptive cherry angiomas associated with vitiligo: provoked by topical nitrogen mustard?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Hereditary hemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Screening for Fabry disease in high-risk populations: a systematic review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Informed decision making about predictive DNA tests: arguments for more public visibility of personal deliberations about the good life

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Confidentiality and sharing genetic information with relatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Cost of illness and economic evaluation in rare diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Why rare diseases are an important medical and social issue

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Enzyme replacement therapy in Fabry disease: influence on cardiac manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Fabry disease: a review of current management strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X

Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10742.X