(Q35202912)

7 August 2017

title

Detection of hunter heterozygotes by enzymatic analysis of hair roots (English)

1 reference

7 August 2017

main subject

mucopolysaccharidosis II

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107796

25 April 2022

Clinical Enzyme Test

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107796

25 April 2022

author name string

N. Nwokoro

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107796

25 April 2022

E. F. Neufeld

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107796

25 April 2022

language of work or name

English

0 references

publication date

1 January 1979

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/107796/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107796

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/107796/pdf/?tool=EBI

25 April 2022

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%3A107796

https://europepmc.org/articles/PMC1685663

25 April 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107796

https://europepmc.org/articles/PMC1685663?pdf=render

25 April 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%3A107796

American Journal of Human Genetics

25 April 2022

published in

1 reference

7 August 2017

volume

31

1 reference

7 August 2017

issue

1

1 reference

7 August 2017

page(s)

42-49

1 reference

Sex chromatin and gene action in the mammalian X-chromosome

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

A probable sex difference in some mutation rates.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

Fabry's disease: heterozygote detection by hair root analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

Inherited disorders of lysosomal metabolism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

X-linked Hunter syndrome: the heterozygous phenotype in cell culture

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the Hunter syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

46 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685663

Demonstration of the heterozygous state in Hunter's syndrome

26 September 2018

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Spontaneous mutation in man

1 reference

12 December 2020

Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes

1 reference

12 December 2020

Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome

1 reference

12 December 2020

Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome

1 reference

12 December 2020

Identifiers

PMC publication ID

1685663

1 reference

7 August 2017

1 reference