(Q41678323)

7 October 2017

Eye movement impairment recovery in a Gaucher patient treated with miglustat (English)

1 reference

7 October 2017

Agostino Accardo

1

1 reference

7 October 2017

Stefano Pensiero

2

1 reference

7 October 2017

Giovanni Ciana

3

1 reference

7 October 2017

Fulvio Parentin

4

1 reference

7 October 2017

Bruno Bembi

5

1 reference

7 October 2017

26 September 2010

1 reference

Neurology Research International

7 October 2017

1 reference

7 October 2017

2010

1 reference

7 October 2017

358534

1 reference

Creative Commons Attribution 3.0 Unported

7 October 2017

start time

1 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Gaucher disease: complexity in a "simple" disorder

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

A neurological symptom survey of patients with type I Gaucher disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Comparison of the main sequence of reflexive saccades and the quick phases of optokinetic nystagmus

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Abnormal vertical optokinetic nystagmus in infants and children

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Intermittent horizontal saccade failure ('ocular motor apraxia') in children

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Ocular Motor Signs in Some Metabolic Diseases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Neurologic complications of Gaucher's disease, type 3.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Assignment of the gene for acid beta-glucosidase to human chromosome 1

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Deterioration of the auditory brainstem response in children with type 3 Gaucher disease

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989716

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2010%2F358534

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

21 January 2018

1 reference

12 December 2020

Some characteristics of saccadic eye movements in children of primary school age

1 reference

12 December 2020

Saccade testing in the diagnosis and treatment of type 3 Gaucher disease

1 reference

12 December 2020

Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination

1 reference

12 December 2020

A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs

1 reference

12 December 2020

Management of neuronopathic Gaucher disease: revised recommendations

1 reference

12 December 2020

Ocular motor abnormalities in Gaucher disease

1 reference

12 December 2020

Saccadic analysis for early identification of neurological involvement in Gaucher disease

1 reference

12 December 2020

Identifiers

DOI

10.1155/2010/358534

1 reference

7 October 2017

1 reference

7 October 2017

PubMed publication ID

21152212

1 reference