(Q37052523)

17 August 2017

Juvenile Gaucher's disease with horizontal gaze palsy in three siblings (English)

1 reference

17 August 2017

1 reference

1 reference

Horizontal gaze palsy

1 reference

1 reference

10.1136/JNNP.40.5.470

https://api.crossref.org/works/10.1136/JNNP.40.5.470

23 April 2023

author name string

J. H. Tripp

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A408464

23 April 2023

B. D. Lake

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A408464

23 April 2023

E. Young

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A408464

23 April 2023

J. Ngu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A408464

23 April 2023

E. M. Brett

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A408464

23 April 2023

language of work or name

English

0 references

publication date

1 May 1977

1 reference

PMC publication ID

492722

full work available at URL

17 August 2017

https://europepmc.org/articles/PMC492722

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A408464

https://europepmc.org/articles/PMC492722?pdf=render

23 April 2023

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%3A408464

https://syndication.highwire.org/content/doi/10.1136/jnnp.40.5.470

23 April 2023

1 reference

Crossref

DOI

10.1136/JNNP.40.5.470

https://api.crossref.org/works/10.1136/JNNP.40.5.470

Journal of Neurology, Neurosurgery and Psychiatry

23 April 2023

published in

1 reference

17 August 2017

40

1 reference

17 August 2017

5

1 reference

17 August 2017

470-478

1 reference

Protein measurement with the Folin phenol reagent

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

A case of juvenile Gaucher's disease with intraneuronal lipid storage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

Progressive myoclonic epilepsy due to Gaucher's disease in an adult

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

Reassessment of rectal approach to neuropathology in childhood: review of 307 biopsies over 11 years

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

Immunological studies in onchocerciasis in Cameroon

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

Rectal biopsy in the diagnosis of neurological disease in childhood

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

Neurological signs in a juvenile form of Gaucher's disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492722

THE RECTAL APPROACH TO NEUROPATHOLOGY

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/408464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gaucher's Disease: Neurologic Disorder in Adult Siblings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/408464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Immunoglobulin abnormalities in Gaucher's disease. Report of 16 cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/408464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP.40.5.470

1 reference

17 August 2017

1 reference

PMC publication ID

492722

17 August 2017

1 reference

PMC publication ID

492722