(Q48293614)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Adult-onset neuronopathic form of Gaucher's disease: a case report (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

Maria Clara Pereira Sá Miranda

4 November 2019

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

Guimarães J

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 June 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

number of pages

4

1 reference

Parkinsonism and Related Disorders

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

261-264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Gaucher's Disease: Neurologic Disorder in Adult Siblings

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study.

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Neurological involvement in type 1 (adult) Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Occurrence of Parkinson's syndrome in type I Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Parkinson's syndrome preceding clinical manifestation of Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

1 reference

7 January 2021

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Neurologic Complications of Nonneuronopathic Gaucher's Disease

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900096-2

7 January 2021

10.1016/S1353-8020(02)00096-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781591%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference