(Q36362062)

13 August 2017

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title

Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum (English)

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13 August 2017

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Michael J Eblan

1

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13 August 2017

Ozlem Goker-Alpan

series ordinal

2

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13 August 2017

Ellen Sidransky

series ordinal

3

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13 August 2017

publication date

1 July 2005

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Fetal and Pediatric Pathology

13 August 2017

published in

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13 August 2017

volume

24

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13 August 2017

issue

4-5

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13 August 2017

page(s)

205-222

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Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

13 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Hydrops fetalis due to infantile Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Collodion babies with Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

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

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Type 2 Gaucher disease: the collodion baby phenotype revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Perinatal lethal form of Gaucher's disease presenting with hemosiderosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Hydrops revisited: literature review of 1,414 cases published in the 1980s

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Intrauterine brain damage in nonimmune hydrops fetalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Molecular genetics of the ichthyoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

CASE REPORT: Novel Point Mutation (W184R) in Neonatal Type 2 Gaucher Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Neuropathology provides clues to the pathophysiology of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Type 2 and type 3 Gaucher disease: a morphological and biochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Type 2 gaucher disease: an expanding phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Hydrops fetalis: sonographic evaluation and clinical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F15227950500405296

10.1080/15227950500405296

21 January 2018

Identifiers

DOI

1 reference

13 August 2017

1 reference