Type 2 Gaucher disease: the collodion baby phenotype revisited (Q35289186)

7 August 2017

title

Type 2 Gaucher disease: the collodion baby phenotype revisited (English)

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7 August 2017

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Stone DL

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7 August 2017

Carey WF

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7 August 2017

Christodoulou J

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7 August 2017

Sillence D

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7 August 2017

Nelson P

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7 August 2017

Callahan M

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7 August 2017

Tayebi N

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7 August 2017

Sidransky E

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7 August 2017

language of work or name

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1 March 2000

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Archives of Disease in Childhood. Fetal and Neonatal Edition

7 August 2017

published in

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7 August 2017

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7 August 2017

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7 August 2017

page(s)

F163-6

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Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease

7 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

New perspectives in type 2 Gaucher disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

Collodion babies with Gaucher's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

Glucocerebrosidase mutations in Gaucher disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1721053

A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease

15 November 2018

1 reference

12 December 2020

Gaucher disease associated with congenital ichthyosis in the neonate

1 reference

12 December 2020

Gaucher disease: four families with previously undescribed mutations

1 reference

12 December 2020

Prenatal Ultrasound Findings in a Fetus Diagnosed with Gaucher's Disease (type 2) at Birth

1 reference

12 December 2020

Identifiers

DOI

10.1136/FN.82.2.F163

1 reference

release_dyl23rps25cfjjfvtlnj2wznty

7 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dyl23rps25cfjjfvtlnj2wznty

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1721053

1 reference

7 August 2017

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