Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings (Q36995243)

From Wikidata

Jump to navigation Jump to search

scientific article published on October 1, 1979

edit

Language	Label	Description	Also known as
English	Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings	scientific article published on October 1, 1979

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

title

Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings (English)

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

main subject

Sialidosis type 1

1 reference

based on heuristic

inferred from title

surgery

1 reference

stated in

Crossref

DOI

10.1136/JNNP.42.10.873

reference URL

https://api.crossref.org/works/10.1136/JNNP.42.10.873

retrieved

18 June 2023

author name string

P. K. Thomas

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

512662

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A512662

retrieved

18 June 2023

J. D. Abrams

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

512662

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A512662

retrieved

18 June 2023

D. Swallow

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

512662

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A512662

retrieved

18 June 2023

G. Stewart

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

512662

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A512662

retrieved

18 June 2023

language of work or name

English

0 references

publication date

1 October 1979

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

full work available at URL

https://europepmc.org/articles/PMC490357

file format

HTML

online access status

open access

content deliverer

Europe PubMed Central

1 reference

stated in

Europe PubMed Central

PubMed publication ID

512662

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A512662

retrieved

18 June 2023

https://europepmc.org/articles/PMC490357?pdf=render

file format

Portable Document Format

online access status

open access

content deliverer

Europe PubMed Central

1 reference

stated in

Europe PubMed Central

PubMed publication ID

512662

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A512662

retrieved

18 June 2023

https://syndication.highwire.org/content/doi/10.1136/jnnp.42.10.873

1 reference

stated in

Crossref

DOI

10.1136/JNNP.42.10.873

reference URL

https://api.crossref.org/works/10.1136/JNNP.42.10.873

retrieved

18 June 2023

published in

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

volume

42

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

issue

10

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

page(s)

873-880

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

cites work

Familial juvenile neuronal storage disease. New disease or variant of juvenile lipidosis?

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

29 September 2017

The cherry-red spot-myoclonus syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

29 September 2017

Sialidosis: a review of human neuraminidase deficiency

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

29 September 2017

Inheritance of the enzyme defect in a new hexosaminidase deficiency disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

29 September 2017

Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

29 September 2017

Macular cherry-red spot, myoclonic epilepsy, and neurovisceral storage in a 17-year-old girl.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

27 June 2018

Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

27 June 2018

Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

27 June 2018

A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia: Clinical and biochemical studies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=490357

retrieved

27 June 2018

Sialidosis (mucolipidosis I)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/512662

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/512662

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzymes studies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/512662

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/512662

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuraminidase deficiency in the cherry red spot-myoclonus syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/512662

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/512662

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigations on a patient subject to myoclonic seizures after sensory stimulation

series ordinal

1

1 reference

stated in

Crossref

DOI

10.1136/JNNP.42.10.873

reference URL

https://api.crossref.org/works/10.1136/JNNP.42.10.873

retrieved

18 June 2023

Identifiers

DOI

10.1136/JNNP.42.10.873

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

PMC publication ID

490357

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

PubMed publication ID

512662

1 reference

stated in

Europe PubMed Central

PMC publication ID

490357

retrieved

17 August 2017

ResearchGate publication ID

22628943

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q36995243&oldid=1917726252"