Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles (Q33587415)

28 July 2017

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

1 reference

https://api.crossref.org/works/10.1136/JMG.14.2.91

28 July 2017

1 reference

1 reference

22 April 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%3A404411

29 June 2022

A. L. Goldbloom

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404411

29 June 2022

J. K. Burgess

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404411

29 June 2022

D. D'entremont

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404411

29 June 2022

B. A. Ripley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404411

29 June 2022

K. L. Weldon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404411

29 June 2022

language of work or name

English

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publication date

1 April 1977

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/404411/pdf/?tool=EBI

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%3A404411

http://jmg.bmjjournals.com/cgi/content/abstract/14/2/91

29 June 2022

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%3A404411

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/404411/?tool=EBI

29 June 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404411

https://europepmc.org/articles/PMC1013521

29 June 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404411

https://europepmc.org/articles/PMC1013521?pdf=render

29 June 2022

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%3A404411

https://syndication.highwire.org/content/doi/10.1136/jmg.14.2.91

29 June 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.14.2.91

Journal of Medical Genetics

22 April 2023

published in

1 reference

28 July 2017

14

1 reference

28 July 2017

2

1 reference

28 July 2017

91-99

1 reference

Protein measurement with the Folin phenol reagent

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Glucose-6-Phosphate Dehydrogenase Deficiency in Female Heterozygoses and the X-Inactivation Hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

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=1013521

Fabry's disease: evidence for a physically altered -galactosidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Fabry's disease: absence of an -galactosidase isozyme

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Biochemical and electrophoretic studies of -galactosidase in normal man, in patients with Fabry's disease, and in Equidae

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Attempted detection of heterozygotes for maple-syrup-urine 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=1013521

A new variant of Sandhoff'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=1013521

Preparation and properties of an affinity column adsorbent for differentiation of multiple forms of -galactosidase activity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Substrate specificity of ceramide trihexosidase.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Glucose-6-phosphate dehydrogenase mosaicism: ito;ozatopm om tje study of hair follicle variegation

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013521

Detection of glucose-6-phosphate dehydrogenase deficient heterozygotes

31 October 2018

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

Fabry's disease: normal α-galactosidase activity and urinary-sediment glycosphingolipid levels in two obligate heterozygotes

1 reference

12 December 2020

Galactosylgalactosylglucosylceramide: Galactosyl hydrolase in normal human plasma and its absence in patients with fabry's disease

1 reference

12 December 2020

Detection of fabry hemizygotes and heterozygotes by measurement of α-galactosidase in urine

1 reference

12 December 2020

Letter: Diagnosis of Fabry's disease by tear alpha-galactosidase A

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

Galactosyl (alpha 1--4)galactosylceramide: galactosyl hydrolase activity in normal and Fabry plasma

1 reference

12 December 2020

Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates

1 reference

12 December 2020

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

1 reference

12 December 2020

Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

1 reference

12 December 2020

Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells

1 reference

12 December 2020

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

1 reference

12 December 2020

The genetics of human haemoglobin differences: problems and perspectives

https://api.crossref.org/works/10.1136/JMG.14.2.91

10

1 reference

22 April 2023

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1 reference

28 July 2017

1 reference