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Article

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

European journal of medical genetics - 1 Nov 2021

Gumus Ersin, Karhan Asuman Nur, Hizarcioglu-Gulsen Hayriye, Demir Hulya, Ozen Hasan, Saltik Temizel Inci Nur, Dokmeci Emre Serap, Yuce Aysel

Abstract excerpt

Data from 38 children were retrospectively analyzed to determine the patient characteristics of Turkish children with Gaucher disease (GD) and evaluate the impact of enzyme replacement therapy (ERT) in a pediatric cohort consisting of two different sub-types of the disease, Gaucher disease type 1 (GD1) and type 3 (GD3). Both types were represented equally (GD1/GD3 = 20/18). L444P (35.5%) was the most common...

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PMID: 34500086
DOI: 10.1016/j.ejmg.2021.104339

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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.

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