(Q42040290)

15 October 2017

Fabry's disease: the search for a regulator gene mutation in man (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028973

29 March 2023

1 reference

H. E. Sutton

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028973

29 March 2023

G. S. Omenn

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028973

29 March 2023

language of work or name

English

0 references

publication date

1 May 1972

1 reference

full work available at URL

15 October 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5028973/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028973

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5028973/pdf/?tool=EBI

29 March 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%3A5028973

https://europepmc.org/articles/PMC1762268

29 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028973

https://europepmc.org/articles/PMC1762268?pdf=render

29 March 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%3A5028973

American Journal of Human Genetics

29 March 2023

published in

1 reference

15 October 2017

24

1 reference

15 October 2017

3

1 reference

15 October 2017

343-347

1 reference

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

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762268

A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762268

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762268

Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762268

Fabry's Disease: Alpha-Galactosidase Deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762268

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762268

Disorders of ganglioside metabolism.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762268

Linkage relationships of the angiokeratoma (Fabry) locus

5 June 2018

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

Loss of human genetic markers in man--Chinese hamster somatic cell hybrids

1 reference

12 December 2020

Testosterone-"regulon" in the mouse kidney

1 reference

12 December 2020

Identifiers

1 reference

15 October 2017

1 reference