Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia (Q33588392)

28 July 2017

Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia (English)

1 reference

https://api.crossref.org/works/10.1136/JMG.15.6.428

28 July 2017

1 reference

1 reference

14 January 2023

author name string

M. W. Spence

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

2 June 2022

J. T. Clarke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

2 June 2022

D. M. D'Entremont

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

2 June 2022

G. A. Sapp

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

2 June 2022

E. R. Smith

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

2 June 2022

A. L. Goldbloom

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

2 June 2022

G. Davar

7

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language of work or name

English

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publication date

1 December 1978

1 reference

full work available at URL

28 July 2017

http://jmg.bmjjournals.com/cgi/content/abstract/15/6/428

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/218016/?tool=EBI

14 January 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/218016/pdf/?tool=EBI

14 January 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

https://europepmc.org/articles/PMC1013757

14 January 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

https://europepmc.org/articles/PMC1013757?pdf=render

14 January 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A218016

https://syndication.highwire.org/content/doi/10.1136/jmg.15.6.428

14 January 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.15.6.428

Journal of Medical Genetics

14 January 2023

published in

1 reference

28 July 2017

15

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28 July 2017

6

1 reference

28 July 2017

428-434

1 reference

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

The syndrome of short P-R interval, normal QRS complex and paroxysmal rapid heart action

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

Angiokeratoma corporis diffusum. Some clinical aspects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

Angiokeratoma corporis diffusum--Fabry's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

Fabry's Disease: Alpha-Galactosidase Deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

21 June 2018

Anderson-Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

Pulmonary involvement in Fabry's disease: a reappraisal follow-up of a San Diego kindred and review of literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

Neutral glycosphingolipids of serum lipoproteins in Fabry's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013757

FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID

21 June 2018

1 reference

12 December 2020

Angiokeratoma corporis diffusum. A clinical study of eight affected families

1 reference

12 December 2020

The abbreviated PR interval of Fabry's disease

1 reference

12 December 2020

Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease

1 reference

12 December 2020

Ceramide trihexosidosis (fabry's disease) without skin lesions

1 reference

12 December 2020

Fabry's Disease With Hypogammaglobulinemia and Without Angiokeratomas

1 reference

12 December 2020

Urinary glycolipids in Fabry's disease. Their examination in the detection of atypical variants and the pre-symptomatic state

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

Identifiers

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28 July 2017

1 reference