(Q36944847)

17 August 2017

1 reference

title

A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease (English)

1 reference

17 August 2017

1 reference

Davies EH

1

1 reference

17 August 2017

Surtees R

2

1 reference

17 August 2017

DeVile C

3

1 reference

17 August 2017

Schoon I

4

1 reference

17 August 2017

Vellodi A

5

1 reference

17 August 2017

language of work or name

1 reference

16 September 2007

1 reference

Journal of Inherited Metabolic Disease

17 August 2017

1 reference

17 August 2017

30

1 reference

17 August 2017

5

1 reference

17 August 2017

768-782

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-007-0595-x

17 August 2017

0 references

cites work

Characterization of neuronopathic Gaucher disease among ethnic Poles

1 reference

12 December 2020

Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease

1 reference

12 December 2020

Gaucher disease--Norrbottnian type. I. General clinical description

1 reference

12 December 2020

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations

1 reference

12 December 2020

Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease

1 reference

12 December 2020

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

1 reference

12 December 2020

Enzyme replacement therapy for Gaucher disease in Australia.

1 reference

12 December 2020

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

1 reference

12 December 2020

Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.

1 reference

12 December 2020

The glucocerebrosidase D409H mutation in Gaucher disease

1 reference

12 December 2020

A constipation assessment scale for use in pediatric oncology

1 reference

12 December 2020

Establishing content validity of the oral assessment guide in children and young people

1 reference

12 December 2020

Scale for the assessment and rating of ataxia: development of a new clinical scale

1 reference

12 December 2020

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

1 reference

12 December 2020

Management of neuronopathic Gaucher disease: a European consensus.

1 reference

12 December 2020

Determination and quantification of content validity.

1 reference

12 December 2020

Redundancy of conventional articular response variables used in juvenile chronic arthritis clinical trials

1 reference

12 December 2020

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

1 reference

12 December 2020

10.1007/S10545-007-0595-X

Identifiers

DOI

1 reference

17 August 2017

1 reference