Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare (Q35969501)

11 August 2017

1 reference

title

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare (English)

1 reference

11 August 2017

1 reference

Shraga Aviner

1

1 reference

11 August 2017

Ben-Zion Garty

2

1 reference

11 August 2017

Avinoam Rachmel

3

1 reference

11 August 2017

Hagit N Baris

4

1 reference

11 August 2017

Ellen Sidransky

5

1 reference

11 August 2017

Avinoam Shuffer

6

1 reference

11 August 2017

Joseph Attias

7

1 reference

11 August 2017

Yisaac Yaniv

8

1 reference

11 August 2017

Ian J Cohen

9

1 reference

11 August 2017

5 September 2009

1 reference

Blood Cells, Molecules and Diseases

11 August 2017

1 reference

11 August 2017

43

1 reference

11 August 2017

3

1 reference

11 August 2017

294-297

1 reference

Type 2 Gaucher disease: 15 new cases and review of the literature

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355376

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355376

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355376

Type 2 gaucher disease: an expanding phenotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355376

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355376

Fine structure of central nervous system in early infantile Gaucher's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355376

Divergent phenotypes in Gaucher disease implicate the role of modifiers

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355376

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.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355376

Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19734074

12 December 2020

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/19734074

12 December 2020

inferred from PubMed ID database lookup

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19734074

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.BCMD.2009.08.004

1 reference

release_byumlkcre5dnfeuiodcvfrjlxa

11 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/byumlkcre5dnfeuiodcvfrjlxa

24 November 2022

mapped directly with Wikidata item

1 reference

11 August 2017

PubMed publication ID

19734074

1 reference