(Q33590206)

28 July 2017

title

An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia (English)

1 reference

internuclear ophthalmoplegia

28 July 2017

main subject

1 reference

1 reference

10.1136/JNNP.54.12.1112

https://api.crossref.org/works/10.1136/JNNP.54.12.1112

6 December 2022

author name string

D. Barnes

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838393

6 December 2022

V. P. Misra

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838393

6 December 2022

E. P. Young

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838393

6 December 2022

P. K. Thomas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838393

6 December 2022

A. E. Harding

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838393

6 December 2022

language of work or name

English

0 references

publication date

1 December 1991

1 reference

28 July 2017

number of pages

2

1 reference

full work available at URL

inferred from page(s)

https://europepmc.org/articles/PMC1014692

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1838393

https://europepmc.org/articles/PMC1014692?pdf=render

6 December 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%3A1838393

https://syndication.highwire.org/content/doi/10.1136/jnnp.54.12.1112

6 December 2022

1 reference

Crossref

DOI

10.1136/JNNP.54.12.1112

https://api.crossref.org/works/10.1136/JNNP.54.12.1112

Journal of Neurology, Neurosurgery and Psychiatry

6 December 2022

published in

1 reference

28 July 2017

volume

54

1 reference

28 July 2017

issue

12

1 reference

28 July 2017

page(s)

1112-1113

1 reference

Qualitative and quantitative morphology of human sural nerve at different ages.

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=1014692

Hexosaminidase A deficiency presenting as juvenile progressive dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014692

Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency 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=1014692

The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014692

Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014692

Hexosaminidase A deficiency in adults

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1838393

12 December 2020

inferred from PubMed ID database lookup

Hexosaminidase A activity and amyotrophic lateral sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1838393

12 December 2020

inferred from PubMed ID database lookup

The clinical spectrum of hexosaminidase deficiency diseases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1838393

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JNNP.54.12.1112

1 reference

28 July 2017

1 reference

28 July 2017

1 reference