(Q35202409)

7 August 2017

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

1 reference

7 August 2017

mucopolysaccharidosis II

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A409283

29 June 2022

1 reference

1 reference

B. R. Migeon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A409283

29 June 2022

J. A. Sprenkle

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A409283

29 June 2022

I. Liebaers

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A409283

29 June 2022

J. F. Scott

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A409283

29 June 2022

E. F. Neufeld

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A409283

29 June 2022

language of work or name

English

0 references

publication date

1 September 1977

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/409283/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%3A409283

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/409283/?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%3A409283

https://europepmc.org/articles/PMC1685417

29 June 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A409283

https://europepmc.org/articles/PMC1685417?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%3A409283

American Journal of Human Genetics

29 June 2022

published in

1 reference

7 August 2017

29

1 reference

7 August 2017

448-454

1 reference

7 August 2017

5

1 reference

Sex chromatin and gene action in the mammalian X-chromosome

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685417

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685417

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685417

The Hunter corrective factor. Purification and preliminary characterization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685417

Inherited disorders of lysosomal metabolism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685417

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685417

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685417

Demonstration of the heterozygous state in Hunter's syndrome

13 July 2018

1 reference

12 December 2020

Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts

1 reference

12 December 2020

In vitro selection for the Hunter gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

PMCID

1685417

1 reference

7 August 2017

1 reference