Clinical and genetic study of Japanese patients with type 3 Gaucher disease (Q83949655)

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29 January 2020

title

Clinical and genetic study of Japanese patients with type 3 Gaucher disease (English)

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29 January 2020

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Asako Tajima

1

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29 January 2020

Takayuki Yokoi

2

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29 January 2020

Masamichi Ariga

3

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29 January 2020

Takeru Ito

4

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29 January 2020

Eiko Kaneshiro

5

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29 January 2020

Yoshikatsu Eto

6

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29 January 2020

Hiroyuki Ida

7

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29 January 2020

publication date

10 May 2009

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Molecular Genetics and Metabolism

29 January 2020

published in

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29 January 2020

volume

97

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29 January 2020

page(s)

272-277

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29 January 2020

issue

4

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A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

29 January 2020

cites work

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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

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Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.

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Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

7 January 2021

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Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

7 January 2021

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

7 January 2021

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Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients.

7 January 2021

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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

7 January 2021

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

7 January 2021

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

7 January 2021

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Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation

7 January 2021

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Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

7 January 2021

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

7 January 2021

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

7 January 2021

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Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases.

7 January 2021

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N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease

7 January 2021

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

7 January 2021

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Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

7 January 2021

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

7 January 2021

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Management of neuronopathic Gaucher disease: a European consensus.

7 January 2021

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Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease.

7 January 2021

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10.1016/J.YMGME.2009.05.001

7 January 2021

Identifiers

DOI

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29 January 2020

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