Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine

Liver involvement in GD type I is common, multifaceted, and may not always be reflected in standard liver function tests. While hepatocellular function is typically preserved, structural liver abnormalities are frequently observed. Serum ferritin may serve as an auxiliary marker of disease activity. The results emphasize the need for comprehensive hepatic monitoring in GD and support the potential value of neonatal screening for early detection and management.

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Publication Details

Journal
Frontiers in Medicine
Published
2025-10-29
DOI
https://doi.org/10.3389/fmed.2025.1610755
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
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article

Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine

Н. Г. Горовенко, О.M. Okhotnikova, Nataliia Samonenko, N. V. Olkhovych
Frontiers in Medicine
Lysosomal Storage Disorders Research
article

Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine

Н. Г. Горовенко, О.M. Okhotnikova, Nataliia Samonenko, N. V. Olkhovych
article en

Abstract

Liver involvement in GD type I is common, multifaceted, and may not always be reflected in standard liver function tests. While hepatocellular function is typically preserved, structural liver abnormalities are frequently observed. Serum ferritin may serve as an auxiliary marker of disease activity. The results emphasize the need for comprehensive hepatic monitoring in GD and support the potential value of neonatal screening for early detection and management.

Frontiers in MedicineVol. 12
Shupyk National Healthcare University of Ukraine (UA), Institute of Genetic and Regenerative Medicine of the National Academy of Medical Sciences of Ukraine (UA), Children's Specialized Hospital (US)
Openalex Percentile: Top 61%
Lysosomal Storage Disorders Research
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