Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

Blood cells, molecules & diseases - 1 Jan 2000

Aviner Shraga, Garty Ben-Zion, Rachmel Avinoam, Baris Hagit N, Sidransky Ellen, Shuffer Avinoam, Attias Joseph, Yaniv Yisaac, Cohen Ian J

Abstract excerpt

Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence of type 2...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Enzyme Replacement Therapy
Share to Gaucher Disease
Share to Glucosylceramidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Homozygote

Share to Infant

Share to Israel

Source

Open in PubMed Open full text

Identifiers

PMID: 19734074
DOI: 10.1016/j.bcmd.2009.08.004
PMCID: PMC3355376

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19734074-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.PMID 19734074Read ↗

Children with type 1 Gaucher disease: Changing profiles in the 21st century.Semantic proximity Read ↗

Carrier Screening for Gaucher DiseaseSemantic proximity Read ↗

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.Semantic proximity Read ↗

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.Semantic proximity Read ↗

Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.Semantic proximity Read ↗

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.Semantic proximity Read ↗

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.Semantic proximity Read ↗

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.Semantic proximity Read ↗

Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.Semantic proximity Read ↗

The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.Semantic proximity Read ↗

Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase MutationsSemantic proximity Read ↗

Gaucher disease in Arab patients at an Israeli referral clinic.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.