The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease (Q33683209)

28 July 2017

title

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease (English)

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28 July 2017

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Sidransky E

1

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28 July 2017

Tayebi N

2

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28 July 2017

Stubblefield BK

3

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28 July 2017

Eliason W

4

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28 July 2017

Klineburgess A

5

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28 July 2017

Pizzolato GP

6

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28 July 2017

Cox JN

7

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28 July 2017

Porta J

8

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28 July 2017

Bottani A

9

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28 July 2017

DeLozier-Blanchet CD

10

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28 July 2017

language of work or name

English

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publication date

1 February 1996

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

2

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28 July 2017

page(s)

132-136

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Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

Mutations causing Gaucher disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

Characterization of human glucocerebrosidase from different mutant alleles

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051839

Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes

30 October 2018

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12 December 2020

Differential expression of the human glucocerebrosidase-coding gene

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12 December 2020

Mutation analysis of 28 Gaucher disease patients: the Australasian experience

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12 December 2020

RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease

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12 December 2020

Identifiers

DOI

10.1136/JMG.33.2.132

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28 July 2017

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28 July 2017

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