(Q36995243)

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

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

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

Europe PubMed Central

PMC publication ID

17 August 2017

Sialidosis type 1

1 reference

based on heuristic

inferred from title

1 reference

10.1136/JNNP.42.10.873

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

18 June 2023

author name string

P. K. Thomas

1

1 reference

Europe PubMed Central

PubMed publication ID

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

18 June 2023

J. D. Abrams

2

1 reference

Europe PubMed Central

PubMed publication ID

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

18 June 2023

D. Swallow

3

1 reference

Europe PubMed Central

PubMed publication ID

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

18 June 2023

G. Stewart

4

1 reference

Europe PubMed Central

PubMed publication ID

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

18 June 2023

language of work or name

0 references

publication date

1 October 1979

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

full work available at URL

https://europepmc.org/articles/PMC490357

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

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

18 June 2023

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

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

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

18 June 2023

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

1 reference

10.1136/JNNP.42.10.873

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

18 June 2023

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

42

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

10

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

873-880

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

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

1 reference

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

29 September 2017

The cherry-red spot-myoclonus syndrome

1 reference

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

29 September 2017

Sialidosis: a review of human neuraminidase deficiency

1 reference

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

29 September 2017

Inheritance of the enzyme defect in a new hexosaminidase deficiency disease

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

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

1 reference

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

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

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

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

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

27 June 2018

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

1 reference

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

27 June 2018

Sialidosis (mucolipidosis I)

1 reference

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

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

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

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

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

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

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuraminidase deficiency in the cherry red spot-myoclonus syndrome

1 reference

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

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

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigations on a patient subject to myoclonic seizures after sensory stimulation

1

1 reference

10.1136/JNNP.42.10.873

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

18 June 2023

Identifiers

10.1136/JNNP.42.10.873

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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