Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. (Q51994501)

19 April 2018

title

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. (English)

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19 April 2018

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Tayebi N

1

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19 April 2018

Reissner KJ

2

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19 April 2018

Lau EK

3

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19 April 2018

Stubblefield BK

4

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19 April 2018

Klineburgess AC

5

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19 April 2018

Martin BM

6

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19 April 2018

Sidransky E

7

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19 April 2018

language of work or name

English

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publication date

1 May 1998

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19 April 2018

published in

Pediatric Research

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19 April 2018

volume

43

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19 April 2018

issue

5

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19 April 2018

page(s)

571-578

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19 April 2018

https://scigraph.springernature.com/pub.10.1203/00006450-199805000-00003

exact match

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cites work

Clinical heterogeneity among patients with Gaucher's disease.

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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Collodion babies with Gaucher's disease

21 January 2018

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Collodion babies with Gaucher's disease--a further case

21 January 2018

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Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease

21 January 2018

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Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.

21 January 2018

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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?

21 January 2018

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The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations causing Gaucher disease

21 January 2018

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55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

21 January 2018

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

21 January 2018

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Mutation analysis in 46 British and Irish patients with Gaucher's disease

21 January 2018

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

21 January 2018

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Structure and organization of the human metaxin gene (MTX) and pseudogene

21 January 2018

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Pathological findings in Gaucher disease type 2 patients following enzyme therapy

21 January 2018

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Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

21 January 2018

1 reference

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10.1203/00006450-199805000-00003

21 January 2018

Identifiers

DOI

1 reference

19 April 2018

Dimensions Publication ID

1064213617

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Fatcat ID

release_hd6njyrtyrekld4e4ewbdtksjm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hd6njyrtyrekld4e4ewbdtksjm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 April 2018