(Q78108294)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9972866%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

Clinical and molecular characteristics of Japanese Gaucher disease (English)

1 reference

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11 December 2019

1 reference

Y Eto

1 reference

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11 December 2019

H Ida

series ordinal

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11 December 2019

publication date

1 February 1999

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11 December 2019

published in

Neurochemical Research

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11 December 2019

volume

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11 December 2019

issue

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11 December 2019

page(s)

207-211

1 reference

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Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

11 December 2019

cites work

1 reference

12 December 2020

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

1 reference

12 December 2020

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

1 reference

12 December 2020

A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients

1 reference

12 December 2020

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

1 reference

12 December 2020

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

1 reference

12 December 2020

Complex alleles of the acid beta-glucosidase gene in Gaucher disease

1 reference

12 December 2020

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans

1 reference

12 December 2020

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

1 reference

12 December 2020

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

1 reference

12 December 2020

Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1

1 reference

12 December 2020

D409H/D409H genotype in Gaucher-like disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

1 reference

12 December 2020

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

1 reference

12 December 2020

2 Gaucher's disease: molecular, genetic and enzymological aspects

1 reference

12 December 2020

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

1 reference

12 December 2020