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
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 -
2
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 -
3
Multivalent C2-alkyl trihydroxypiperidine architectures modulate β-glucocerebrosidase activity.
Buco F, Clemente F, Cardona F, Morrone A, Paoli P, Moya SE, Goti A, Matassini C, Marradi M. · 2026-05-20
unreviewed -
4
Targeting lysosomal dysfunction with small-molecule TRPML1 ligands: Therapeutic opportunities in lysosomal storage disorders, neurodegeneration and beyond.
Czuba M, Szafrańska K, Kolaczkowski M, Marcinkowska M. · 2026-05-14
unreviewed -
5
Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study.
Gupta N, Saranya S D, Koundinya S, Bhatt M, Muranjan M, Moirangthem A, Jagdeesh S, Nagral A, Panigrahi I, Gup… · 2026-07-08
cited 4× unreviewed -
6
Newborn screening for Fabry disease in Japan: an additional 3-year report.
Sawada T, Kido J, Sugawara K, Yoshida S, Inoue T, Hirose S, Nakamura K. · 2026-06-11
open access unreviewed -
7
Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease.
Ain NU, Bar N, Guo L, Klinger K, Gupta P, Rahman AU, Yang R, Deng Y, Neparidze N, Nair S, Mistry PK. · 2026-06-17
unreviewed -
8
Honoring Padma Shri Professor I.C. Verma - A Tribute from the Indian Medical Advisory Board (IMAB).
Mistry PK. · 2026-04-14
unreviewed -
9
Coexistence of Multiple Myeloma and Gaucher Disease: A Pilot Study.
Özgören İ, Eroğlu Küçükdiler AH, Turgutkaya A, Yavaşoğlu İ. · 2026-08-13
unreviewed -
10
The cutaneous phenotypic landscape of Gaucher disease type 1: a clinic-based cross-sectional study.
Ollech A, Doga C, Sanders N, Schulman E, Frydman D, Dinur T, Becker-Cohen M, Zimran A, Revel-Vilk S. · 2026-08-10
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.