(Q42743096)

6 November 2017

Different phenotypes among Lesch-Nyhan variants: clinical reality or limitation of ascertainment? (English)

1 reference

6 November 2017

Different Phenotypes Among Lesch-Nyhan Variants: Clinical Reality or Limitation of Ascertainment? (English)

1 reference

10.1001/ARCHNEUROL.2010.360

Crossref

DOI

https://api.crossref.org/works/10.1001/ARCHNEUROL.2010.360

24 November 2024

0 references

Rong Fu

1 reference

6 November 2017

Hyder A. Jinnah

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21321001

24 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21321001

24 November 2024

publication date

1 February 2011

1 reference

6 November 2017

February 2011

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21321001

full work available at URL

24 November 2024

https://europepmc.org/articles/pmc4891938?pdf=render

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21321001

http://archneur.ama-assn.org/cgi/content/abstract/68/2/270

24 November 2024

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%3A21321001

https://europepmc.org/articles/PMC4891938

24 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21321001

https://europepmc.org/articles/PMC4891938?pdf=render

24 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21321001

https://doi.org/10.1001/archneurol.2010.360

24 November 2024

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%3A21321001

http://jamanetwork.com/journals/jamaneurology/fullarticle/1033470

24 November 2024

1 reference

10.1001/ARCHNEUROL.2010.360

Crossref

DOI

https://api.crossref.org/works/10.1001/ARCHNEUROL.2010.360

24 November 2024

published in

Archives of Neurology

1 reference

6 November 2017

1 reference

6 November 2017

1 reference

6 November 2017

270; author reply 270-1

1 reference

Attenuated variants of Lesch-Nyhan disease

6 November 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4891938

Delineation of the motor disorder of Lesch-Nyhan disease

27 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4891938

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

27 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4891938

Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members

27 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21321001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUROL.2010.360

1 reference

6 November 2017

1 reference

6 November 2017

1 reference