(Q35570932)

8 August 2017

title

Kniest syndrome with dominant inheritance and mucopolysacchariduria (English)

1 reference

8 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

4 May 2022

author name string

H. J. Kim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

4 May 2022

N. G. Beratis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

4 May 2022

P. Brill

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

4 May 2022

E. Raab

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

4 May 2022

K. Hirschhorn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

4 May 2022

R. Matalon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

4 May 2022

language of work or name

English

0 references

publication date

1 November 1975

1 reference

full work available at URL

8 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/128291/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/128291/pdf/?tool=EBI

4 May 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%3A128291

https://europepmc.org/articles/PMC1762909

4 May 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A128291

https://europepmc.org/articles/PMC1762909?pdf=render

4 May 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%3A128291

American Journal of Human Genetics

4 May 2022

published in

1 reference

8 August 2017

volume

27

1 reference

8 August 2017

issue

6

1 reference

8 August 2017

page(s)

755-764

1 reference

Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses

8 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=1762909

Mammalian alpha-acetylglucosaminidase. Enzymic properties, tissue distribution, and intracellular localization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762909

Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762909

Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762909

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762909

The nature of the link between protein and carbohydrate of a chondroitin sulphate complex from hyaline cartilage

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762909

[Differential diagnosis between dysostosis enchondralis and chondrodystrophy]

26 September 2018

1 reference

12 December 2020

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification

1 reference

12 December 2020

Chemistry of beta-heparin (chondroitinsulfuric acid-B)

1 reference

12 December 2020

Determination of 2-deoxy-2-sulfoaminohexose content of mucopolysaccharides

1 reference

12 December 2020

1 reference

12 December 2020

The acid mucopolysaccharides in normal urine

1 reference

12 December 2020

Hurler's syndrome, an -L-iduronidase deficiency

1 reference

12 December 2020

Spondyloepiphyseal Dysplasia Congenita

1 reference

12 December 2020

1 reference

12 December 2020

The sulfation of chondroitin sulfate in embryonic chick cartilage epiphyses

1 reference

12 December 2020

Method for the determination of hexosamines in tissues

1 reference

12 December 2020

Identifiers

PMC publication ID

1762909

1 reference

8 August 2017

1 reference