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

Children with type 1 Gaucher disease: Changing profiles in the 21st century.

Blood cells, molecules & diseases - 1 Feb 2018

Elstein Deborah, Altarescu Gheona, Abrahamov Aya, Zimran Ari

Abstract excerpt

Gaucher disease (GD) has phenotypic variability. Increased GD awareness especially among at-risk Ashkenazi Jews (AJ) and availability of non-invasive diagnosis induced trend to prenatal screening. We retrospectively assessed pediatric (<16years) Israeli AJ GD patients to ascertain demographics and phenotype at presentation and over-time because many were identified by large-scale screening. 55/67 patients born...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Enzyme Replacement Therapy

Share to Gaucher Disease

Share to Genetic Association Studies

Share to Israel

Source

Identifiers

PMID: 28185830
DOI: 10.1016/j.bcmd.2016.12.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Children with type 1 Gaucher disease: Changing profiles in the 21st century.PMID 28185830Read ↗

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).Semantic proximity Read ↗

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.Semantic proximity Read ↗

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?Semantic proximity Read ↗

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.Semantic proximity Read ↗

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of PediatricsSemantic proximity Read ↗

Understanding the natural history of G aucher diseaseSemantic proximity Read ↗

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.Semantic proximity Read ↗

Recent clinical progress in Gaucher diseaseSemantic proximity Read ↗

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

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screeningSemantic proximity Read ↗

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.Semantic proximity Read ↗

Neuronopathic Gaucher disease: Rare in the West, common in the East.Semantic proximity Read ↗

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