(Q33587819)

28 July 2017

title

Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity (English)

1 reference

28 July 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A412969

29 June 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.14.5.346

25 April 2023

author name string

B. S. Danes

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A412969

29 June 2022

language of work or name

English

0 references

publication date

1 October 1977

1 reference

full work available at URL

28 July 2017

http://jmg.bmjjournals.com/cgi/content/abstract/14/5/346

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%3A412969

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/412969/?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%3A412969

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/412969/pdf/?tool=EBI

29 June 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%3A412969

https://europepmc.org/articles/PMC1013618

29 June 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A412969

https://europepmc.org/articles/PMC1013618?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%3A412969

https://syndication.highwire.org/content/doi/10.1136/jmg.14.5.346

29 June 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.14.5.346

Journal of Medical Genetics

25 April 2023

published in

1 reference

28 July 2017

volume

14

1 reference

28 July 2017

issue

5

1 reference

28 July 2017

page(s)

346-351

1 reference

Clonal growth of mammalian cells in vitro; growth characteristics of colonies from single HeLa cells with and without a feeder layer

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013618

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=1013618

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013618

Afferent arc of the corneal immunologic reaction. II. Local and systemic response to bovine gamma-globulin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013618

Letter: Phenotypic variation in alpha-L-iduronidase 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=1013618

Chondroitin-4-sulphate mucopolysaccharidosis--a new variant of Hurler's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013618

Letter: In-vitro confirmation of genetic compound of the Hurler and Scheie syndromes

31 October 2018

1 reference

12 December 2020

Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency

1 reference

12 December 2020

Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency

1 reference

12 December 2020

Mucopolysaccharides in urine during normal human development

1 reference

12 December 2020

Hurler's syndrome, an -L-iduronidase deficiency

1 reference

12 December 2020

Chondroitin-4-sulfate mucopolysaccharidosis

1 reference

12 December 2020

A form of mucopolysaccharidosis with visceral storage and excessive urinary excretion of chondroitin sulphate

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.14.5.346

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=412969

29 June 2022

1 reference

28 July 2017

1 reference