Research & Literature

Atypical cytomorphology of Gaucher cells is frequently seen in bone marrow smears from untreated patients with Gaucher disease type 1.

Markuszewska-Kuczynska A, Klimkowska M, Regenthal S, et al.

Folia histochemica et cytobiologica 2015; (53(1)):62-9 doi:10.5603/FHC.a2015.0003.

Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series.

Serratrice C, Swiader L, Serratrice J

Journal of medical case reports 2015; (9()):146 doi:10.1186/s13256-015-0617-5.

Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.

Laudemann K, Moos L, Mengel KE, et al.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin 2015; (187(12)):1093-8 doi:10.1055/s-0035-1553362.

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.

Bennett LL, Turcotte K

Drug design, development and therapy 2015; (9()):4639-47 doi:10.2147/DDDT.S77760.

Sleep aspects on video-polysomnography in LRRK2 mutation carriers.

Ehrminger M, Leu-Semenescu S, Cormier F, et al.

Movement disorders : official journal of the Movement Disorder Society 2015; (30(13)):1839-43 doi:10.1002/mds.26412.

Hematological manifestations and complications of Gaucher disease.

Linari S, Castaman G

Expert review of hematology 2016; (9(1)):51-8 doi:10.1586/17474086.2016.1112732.

Gaucher Disease: Clinical, Biological and Therapeutic Aspects.

Dandana A, Ben Khelifa S, Chahed H, et al.

Pathobiology : journal of immunopathology, molecular and cellular biology 2016; (83(1)):13-23 doi:10.1159/000440865.

Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging.

Laudemann K, Moos L, Mengel E, et al.

Blood cells, molecules & diseases 2016; (57()):35-41.

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.

Belmatoug N, Di Rocco M, Fraga C, et al.

European journal of internal medicine 2017; (37()):25-32 doi:10.1016/j.ejim.2016.07.011.

Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options.

Van Rossum A, Holsopple M

Hospital pharmacy 2016; (51(7)):553-63 doi:10.1310/hpj5107-553.

Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy.

Weinreb NJ, Barbouth DS, Lee RE

Blood cells, molecules & diseases 2018; (68()):211-217 doi:10.1016/j.bcmd.2016.10.002.

Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.

Zimran A, Elstein D, Gonzalez DE, et al.

Blood cells, molecules & diseases 2018; (68()):153-159 doi:10.1016/j.bcmd.2016.10.007.

Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease.

Murugesan V, Liu J, Yang R, et al.

Blood cells, molecules & diseases 2018; (68()):47-53 doi:10.1016/j.bcmd.2016.12.002.

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Stirnemann J, Belmatoug N, Camou F, et al.

International journal of molecular sciences 2017; (18(2)) doi:10.3390/ijms18020441.

Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation.

Herrera S, Pérez-López J, Moltó-Abad M, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017; (32(7)):1575-1581 doi:10.1002/jbmr.3121.

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

Biegstraaten M, Cox TM, Belmatoug N, et al.

Blood cells, molecules & diseases 2018; (68()):203-208 doi:10.1016/j.bcmd.2016.10.008.

Morphological Changes in Bone Marrow Post Imatinib Therapy in Chronic Phase CML: A Follow up Study on Sequential Bone Marrow Aspirates and Biopsies.

Narang NC, Rusia U, Sikka M, Kotru M

Journal of clinical and diagnostic research : JCDR 2017; (11(4)):EC25-EC29 doi:10.7860/JCDR/2017/25173.9650.

Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma.

Kini JR, Sreeram S, Hegde A, et al.

Journal of clinical and diagnostic research : JCDR 2017; (11(9)):ED14-ED15 doi:10.7860/JCDR/2017/31008.10650.

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease.

Lefebvre T, Reihani N, Daher R, et al.

Haematologica 2018; (103(4)):587-596 doi:10.3324/haematol.2017.177816.

EVALUATION OF EFFICIENCY OF IMIGLUCERASE (CEREZYME) IN THE TREATMENT OF GAUCHER DISEASE (CASE REPORTS AND REVIEW OF THE LITERATURE).

Samohalska O, Kornaga S, Mandziy Z, et al.

Georgian medical news 2018; 69-73.

Population-based cohort of 500 patients with Gaucher disease in Israel.

Jaffe DH, Flaks-Manov N, Benis A, et al.

BMJ open 2019; (9(1)):e024251 doi:10.1136/bmjopen-2018-024251.

[Gaucher Disease type 1 mimicking immune thrombocytopenia: Role of hyperferritinemia and hypergammaglobulinemia in the initial evaluation of an isolated thrombopenia].

Faucher B, Seguier J, Swiader L, et al.

La Revue de medecine interne 2019; (40(10)):680-683 doi:10.1016/j.revmed.2019.05.013.

Gaucher Disease in Bone: From Pathophysiology to Practice.

Hughes D, Mikosch P, Belmatoug N, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019; (34(6)):996-1013 doi:10.1002/jbmr.3734.

Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report.

Vujosevic S, Medenica S, Vujicic V, et al.

World journal of clinical cases 2019; (7(12)):1475-1482 doi:10.12998/wjcc.v7.i12.1475.

Synchronous multiple myeloma and Gaucher disease.

Monge J, Chadburn A, Gergis U

Hematology/oncology and stem cell therapy 2020; (13(1)):42-45 doi:10.1016/j.hemonc.2019.07.001.

Drug-Drug Interactions Of Amiodarone And Quinidine On The Pharmacokinetics Of Eliglustat In Rats.

Wang Q, Wang H, Zhong Y, Zhang Q

Drug design, development and therapy 2019; (13()):4207-4213 doi:10.2147/DDDT.S226948.

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.

Vu L, Cox GF, Ibrahim J, et al.

Molecular genetics and metabolism reports 2020; (22()):100552 doi:10.1016/j.ymgmr.2019.100552.

Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.

Schierding W, Farrow S, Fadason T, et al.

Movement disorders : official journal of the Movement Disorder Society 2020; (35(8)):1346-1356 doi:10.1002/mds.28144.

A Quantitative Systems Pharmacology Model of Gaucher Disease Type 1 Provides Mechanistic Insight Into the Response to Substrate Reduction Therapy With Eliglustat.

Abrams R, Kaddi CD, Tao M, et al.

CPT: pharmacometrics & systems pharmacology 2020; (9(7)):374-383 doi:10.1002/psp4.12506.

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots.

Cozma C, Cullufi P, Kramp G, et al.

International journal of molecular sciences 2020; (21(13)) doi:10.3390/ijms21134577.

Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1.

Anderson HE, Taylor MRG

American journal of medical genetics. Part A 2020; (182(12)):2988-2993 doi:10.1002/ajmg.a.61880.

How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations.

Ruskin JN, Ortemann-Renon C, Msihid J, et al.

Molecular genetics and metabolism 2020; (131(1-2)):211-218 doi:10.1016/j.ymgme.2020.09.003.

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.

Bonesteele G, Gargus JJ, Curtin E, et al.

Molecular genetics and metabolism reports 2020; (25()):100663 doi:10.1016/j.ymgmr.2020.100663.

A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact.

Zimran A, Ruchlemer R, Revel-Vilk S

Hematology. American Society of Hematology. Education Program 2020; (2020(1)):389-394 doi:10.1182/hematology.2020000123.

Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.

Abell K, Chadwell SE, Burrow TA, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(4)):1052-1059 doi:10.1002/ajmg.c.31870.

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.

Stiles AR, Huggins E, Fierro L, et al.

Molecular genetics and metabolism reports 2021; (27()):100729 doi:10.1016/j.ymgmr.2021.100729.

Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells.

Avenali M, Cerri S, Ongari G, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(5)):1267-1272 doi:10.1002/mds.28496.

Sweet or Bland Dreams? Taste Loss in Isolated REM-Sleep Behavior Disorder and Parkinson's Disease.

Nigam M, Ayadi I, Noiray C, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(10)):2431-2435 doi:10.1002/mds.28692.

Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease.

Kleytman N, Ruan J, Ruan A, et al.

Molecular genetics and metabolism reports 2021; (29()):100798 doi:10.1016/j.ymgmr.2021.100798.

Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.

Omer N, Giladi N, Gurevich T, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(1)):190-195 doi:10.1002/mds.28792.

In-depth phenotyping for clinical stratification of Gaucher disease.

D'Amore S, Page K, Donald A, et al.

Orphanet journal of rare diseases 2021; (16(1)):431 doi:10.1186/s13023-021-02034-6.

Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease.

Vellas D, Gramont B, Grange R, Cathébras P

European journal of case reports in internal medicine 2021; (8(9)):002802 doi:10.12890/2021_002802.

Two cases of neuronopathic form of Gaucher disease - diagnostic difficulties.

Kleinotiene G, Ivaskeviciene A, Tylki-Szymanska A

Acta biochimica Polonica 2021; (69(1)):119-122 doi:10.18388/abp.2020_5760.

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

Dinur T, Bauer P, Beetz C, et al.

International journal of molecular sciences 2022; (23(3)) doi:10.3390/ijms23031627.

Recommendations for oral treatment for adult patients with type 1 Gaucher disease.

Torralba-Cabeza MÁ, Morado-Arias M, Pijierro-Amador A, et al.

Revista clinica espanola 2022; (222(9)):529-542 doi:10.1016/j.rceng.2022.02.008.

Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry.

Rosenbloom BE, Cappellini MD, Weinreb NJ, et al.

American journal of hematology 2022; (97(10)):1337-1347 doi:10.1002/ajh.26675.

An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan.

Ida H, Watanabe Y, Sagara R, et al.

Orphanet journal of rare diseases 2022; (17(1)):401 doi:10.1186/s13023-022-02549-6.

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.

Gayed MM, Jung SH, Huggins E, et al.

International journal of molecular sciences 2022; (23(23)) doi:10.3390/ijms232314938.

Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease.

D'Amore S, Sano H, Chappell DDG, et al.

Radiology 2023; (307(1)):e212779 doi:10.1148/radiol.212779.

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.

Dardis A, Michelakakis H, Rozenfeld P, et al.

Orphanet journal of rare diseases 2022; (17(1)):442 doi:10.1186/s13023-022-02573-6.

Comprehensive and long-term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3.

Anurathapan U, Tim-Aroon T, Zhang W, et al.

Pediatric blood & cancer 2023; (70(3)):e30149 doi:10.1002/pbc.30149.

Suicidal attempt with eliglustat overdose.

Nadler J, Hermanns-Clausen M, Dilger K

JIMD reports 2023; (64(1)):23-26 doi:10.1002/jmd2.12341.

Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1.

Peterschmitt MJ, Foster MC, Ji AJ, et al.

Molecular genetics and metabolism 2023; (138(3)):107527 doi:10.1016/j.ymgme.2023.107527.

Animal Models for the Study of Gaucher Disease.

Cabasso O, Kuppuramalingam A, Lelieveld L, et al.

International journal of molecular sciences 2023; (24(22)) doi:10.3390/ijms242216035.

Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease.

Manisha R, Phadke SR

Indian journal of pediatrics 2025; (92(6)):585-591 doi:10.1007/s12098-023-04986-y.

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Giacomarra M, Colomba P, Francofonte D, et al.

Journal of clinical medicine 2024; (13(5)) doi:10.3390/jcm13051487.

Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.

Dubiela P, Szymanska-Rozek P, Hasinski P, et al.

Biomolecules 2024; (14(7)) doi:10.3390/biom14070842.

Pompe disease: Unmet needs and emerging therapies.

George KA, Anding AL, van der Flier A, et al.

Molecular genetics and metabolism 2024; (143(3)):108590 doi:10.1016/j.ymgme.2024.108590.

Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report.

Bohara S, Bhattarai S, Khadka M, et al.

Annals of medicine and surgery (2012) 2024; (86(11)):6780-6783 doi:10.1097/MS9.0000000000002566.

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.

Eskes ECB, van Dussen L, Aerts JMFG, et al.

JIMD reports 2024; (65(5)):330-340 doi:10.1002/jmd2.12420.

An Overview of Gaucher Disease.

Méndez-Cobián DA, Guzmán-Silahua S, García-Hernández D, et al.

Diagnostics (Basel, Switzerland) 2024; (14(24)) doi:10.3390/diagnostics14242840.

The Diagnosis and Therapy of Osteoporosis in Gaucher Disease.

Marcucci G, Brandi ML

Calcified tissue international 2025; (116(1)):31 doi:10.1007/s00223-024-01340-y.

Evaluation of Induced Pluripotent Stem Cell-Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism.

Hertz E, Rytel K, Perez G, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(8)):1719-1724 doi:10.1002/mds.30273.

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report.

Ma M, Wu N, Feng J, et al.

Frontiers in pediatrics 2025; (13()):1628525 doi:10.3389/fped.2025.1628525.

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.

Cullufi P, Velmishi V, Troja E, et al.

Journal of clinical medicine 2025; (14(19)) doi:10.3390/jcm14197015.

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project.

Costa A, Perra D, Mulas O, et al.

Mediterranean journal of hematology and infectious diseases 2026; (18(1)):e2026016 doi:10.4084/MJHID.2026.016.

Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.

Carubbi F, Linari S, Spada M

International journal of molecular sciences 2026; (27(4)) doi:10.3390/ijms27041705.

Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease.

Lipiński P, Rokicki D, Chwiałkowska K, et al.

Life (Basel, Switzerland) 2026; (16(3)) doi:10.3390/life16030485.

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry.

Alcalay RN, Mistry P, Di Fonzo A, et al.

Neurology 2026; (106(10)):e214986 doi:10.1212/WNL.0000000000214986.