Enzyme or protein defect
Glucocerebrosidase
Accumulates or becomes deficient
Glucocerebroside
Key features
Hepatosplenomegaly, pancytopenia, bone crises, Gaucher (crumpled-tissue-paper) cells
Management
Enzyme replacement (imiglucerase); substrate reduction
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study.
Iverson A, Sinha DB, Fierro L, Stauffer C, Naik H, Alcalay RN, Balwani M. · 2026-09-16
open access unreviewed -
2
Computational evaluation of EPA-PC binding to GCase in neuronopathic Gaucher disease.
Nagori R, Rai PK, Solanki M, Sabharwal U, Patel P. · 2026-09-08
open access unreviewed -
3
Experiences of children and adults having a sibling with profound intellectual and multiple disabilities: a qualitative systematic review.
Koto Y, Tanaka M, Ueki S, Niinomi K. · 2026-08-06
open access unreviewed -
4
Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.
Guo W, Bi J, Ji P, Xie Y. · 2026-08-13
open access unreviewed -
5
Non-immune hydrops fetalis (NIHF): diagnostic evaluation and lessons learned from a case series.
Al Hassan J, Yared G, El Hajjar C, Dahrouj M, Massaad C, El Moghrabi A, Ghazal K. · 2026-06-03
open access unreviewed -
6
Beyond spherical vesicles: morphological diversity of extracellular vesicles in health and disease.
Velázquez-Cervantes MA, Fierro NA, Lozano-Hernández R, Carrero JC. · 2026-05-04
open access unreviewed -
7
Disruptions in speech, language and social communication in lysosomal storage diseases.
Johnson G, Gool RV, Gaskin K, Wong J, Upadhyay J, Vogel AP. · 2026-09-02
unreviewed -
8
Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.
Sadaria R. · 2026-06-19
open access unreviewed -
9
Metabolic Structure: A Paradigm Revisited in Light of the Fundamental Parameters of Living Systems
Fantini J. · 2026-10-01
open access unreviewed -
10
Profiling peripheral immune cells in Parkinson's disease: A scoping review
Recinto S, Jernigan Posey J, Lefter N, Vitic Z, Overgaard M, Liu L, Howden A, Eyer K, Romero-Ramos M, Tansey … · 2026-10-08
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.