Research & Literature

Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.

Mucci JM, Rozenfeld P

Journal of immunology research 2015; (2015()):192761 doi:10.1155/2015/192761.

A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat.

Remenova T, Morand O, Amato D, et al.

Orphanet journal of rare diseases 2015; (10()):81 doi:10.1186/s13023-015-0297-7.

Gaucher disease and comorbidities: B-cell malignancy and parkinsonism.

Cox TM, Rosenbloom BE, Barker RA

American journal of hematology 2015; (90 Suppl 1()):S25-8 doi:10.1002/ajh.24057.

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.

Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher's disease patients.

de Mello RA, Mello MB, Pessanha LB

Radiologia brasileira 2015; (48(4)):216-9 doi:10.1590/0100-3984.2014.0068.

Eliglustat: A Review in Gaucher Disease Type 1.

Scott LJ

Drugs 2015; (75(14)):1669-78 doi:10.1007/s40265-015-0468-9.

Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.

Aflaki E, Moaven N, Borger DK, et al.

Aging cell 2016; (15(1)):77-88 doi:10.1111/acel.12409.

Clinical manifestations and management of Gaucher disease.

Linari S, Castaman G

Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases 2015; (12(2)):157-64 doi:10.11138/ccmbm/2015.12.2.157.

Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

Abdelwahab M, Blankenship D, Schiffmann R

Neurology. Genetics 2016; (2(2)):e55 doi:10.1212/NXG.0000000000000055.

Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease.

Zimran A, Durán G, Mehta A, et al.

American journal of hematology 2016; (91(7)):656-60 doi:10.1002/ajh.24369.

Interruption of enzyme replacement therapy in Gaucher disease.

Goldblatt J, Fletcher JM, McGill J, et al.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016; (106(6 Suppl 1)):S79-81 doi:10.7196/SAMJ.2016.v106i6.11002.

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.

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.

Liu G, Boot B, Locascio JJ, et al.

Annals of neurology 2016; (80(5)):674-685 doi:10.1002/ana.24781.

Gaucher disease epidemiology and natural history: a comprehensive review of the literature.

Nalysnyk L, Rotella P, Simeone JC, et al.

Hematology (Amsterdam, Netherlands) 2017; (22(2)):65-73 doi:10.1080/10245332.2016.1240391.

The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises.

Andrade-Campos M, Valero E, Roca M, et al.

Blood cells, molecules & diseases 2018; (68()):126-134 doi:10.1016/j.bcmd.2016.10.004.

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.

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.

Lau H, Belmatoug N, Deegan P, et al.

Blood cells, molecules & diseases 2018; (68()):226-231 doi:10.1016/j.bcmd.2016.10.003.

Growth and final height of children with Gaucher disease: A 15-year follow-up at an Israeli Gaucher center.

Mendelsohn E, Meir A, Abrahamov A, et al.

Blood cells, molecules & diseases 2018; (68()):97-99 doi:10.1016/j.bcmd.2016.11.014.

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.

El-Beshlawy A, Tylki-Szymanska A, Vellodi A, et al.

Molecular genetics and metabolism 2017; (120(1-2)):47-56 doi:10.1016/j.ymgme.2016.12.001.

Gaucher disease in the liver on hepatocyte specific contrast agent enhanced MR imaging.

Ayyala RS, Teot LA, Perez Rossello JM

Pediatric radiology 2017; (47(4)):484-487 doi:10.1007/s00247-017-3779-z.

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.

Type 1 Gaucher disease (CYP2D6-eliglustat).

Becquemont L

Therapie 2017; (72(2)):323-326 doi:10.1016/j.therap.2016.09.019.

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.

Investigation of novel pharmacological chaperones for Gaucher Disease.

Yilmazer B, Yagci ZB, Bakar E, et al.

Journal of molecular graphics & modelling 2017; (76()):364-378 doi:10.1016/j.jmgm.2017.07.014.

Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight.

Tylki-Szymańska A, Szymańska-Rożek P, Hasiński P, Ługowska A

Molecular genetics and metabolism 2018; (123(4)):495-500 doi:10.1016/j.ymgme.2018.02.004.

Multi-parametric MR imaging using apparent diffusion coefficient and fat fraction in quantification of bone marrow in pediatrics with Gaucher disease.

Razek AAKA, Abdalla A, Barakat T, et al.

Clinical imaging 2018; (51()):318-322 doi:10.1016/j.clinimag.2018.06.011.

A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.

Hosoba S, Kito K, Teramoto Y, et al.

Medicine 2018; (97(27)):e11361 doi:10.1097/MD.0000000000011361.

Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.

Reed MC, Bauernfreund Y, Cunningham N, et al.

Gene 2018; (678()):196-206 doi:10.1016/j.gene.2018.08.045.

Enzyme Replacement Therapy in a Gaucher Family.

Erdem N, Buran T, Berber I, Aydogdu I

Journal of the National Medical Association 2018; (110(4)):330-333 doi:10.1016/j.jnma.2017.06.013.

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

Potnis KC, Flueckinger LB, DeArmey SM, et al.

Molecular genetics and metabolism reports 2018; (17()):69-72 doi:10.1016/j.ymgmr.2018.10.001.

Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Kim EA, Lim YT, Hah JO, et al.

International journal of hematology 2019; (109(3)):361-365 doi:10.1007/s12185-018-2559-3.

[Gaucher's disease - an overview about a sphingolipidosis].

Tamò R, Hochuli M, Beuschlein F, Nowak A

Therapeutische Umschau. Revue therapeutique 2018; (75(4)):209-214 doi:10.1024/0040-5930/a000992.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1.

Lollert A, Laudemann K, Mengel E, et al.

Klinische Padiatrie 2019; (231(2)):52-59 doi:10.1055/a-0788-8795.

Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report.

Emanuel AJ, Holman N, Presnell SE, et al.

Journal of gastrointestinal and liver diseases : JGLD 2018; (27(4)):459-463 doi:10.15403/jgld.2014.1121.274.bow.

A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.

Thirumal Kumar D, Iyer S, Christy JP, et al.

Advances in protein chemistry and structural biology 2019; (114()):315-339 doi:10.1016/bs.apcsb.2018.10.002.

[Gaucher disease: A review].

Nguyen Y, Stirnemann J, Belmatoug N

La Revue de medecine interne 2019; (40(5)):313-322 doi:10.1016/j.revmed.2018.11.012.

Safety and efficacy of velaglucerase alfa replacement therapy for patients with type 1 Gaucher disease.

Elstein D, Zimran A

Expert review of endocrinology & metabolism 2013; (8(4)):333-339 doi:10.1586/17446651.2013.811871.

A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina.

Oliveri B, González D, Quiroga F, et al.

Calcified tissue international 2019; (104(6)):650-657 doi:10.1007/s00223-019-00536-x.

GBA1-associated parkinsonism: new insights and therapeutic opportunities.

Ryan E, Seehra G, Sharma P, Sidransky E

Current opinion in neurology 2019; (32(4)):589-596 doi:10.1097/WCO.0000000000000715.

[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.

Glucocerebrosidase and its relevance to Parkinson disease.

Do J, McKinney C, Sharma P, Sidransky E

Molecular neurodegeneration 2019; (14(1)):36 doi:10.1186/s13024-019-0336-2.

[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].

Deriaz S, Serratrice C, Lidove O, et al.

La Revue de medecine interne 2019; (40(12)):778-784 doi:10.1016/j.revmed.2019.07.011.

A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades.

Hopf S, Pfeiffer N, Liesenfeld M, et al.

Orphanet journal of rare diseases 2019; (14(1)):257 doi:10.1186/s13023-019-1244-9.

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.

Massaro G, Hughes MP, Whaler SM, et al.

Human molecular genetics 2020; (29(12)):1933-1949 doi:10.1093/hmg/ddz317.

Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.

Lepe-Balsalobre E, Santotoribio JD, Nuñez-Vazquez R, et al.

Clinical chemistry and laboratory medicine 2020; (58(12)):2017-2024 doi:10.1515/cclm-2020-0306.

99mTc-MDP Bone Scintigraphy in Gaucher Disease.

Kesim S, Turoglu HT, Tutar E, et al.

Clinical nuclear medicine 2020; (45(10)):e455-e456 doi:10.1097/RLU.0000000000003140.

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.

The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.

Roshan Lal T, Seehra GK, Steward AM, et al.

Neurology 2020; (95(15)):e2119-e2130 doi:10.1212/WNL.0000000000010605.

Unraveling the mystery of Gaucher bone density pathophysiology.

Rozenfeld PA, Crivaro AN, Ormazabal M, et al.

Molecular genetics and metabolism 2021; (132(2)):76-85 doi:10.1016/j.ymgme.2020.07.011.

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.

Revel-Vilk S, Fuller M, Zimran A

International journal of molecular sciences 2020; (21(19)) doi:10.3390/ijms21197159.

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease.

Dinur T, Istaiti M, Frydman D, et al.

Orphanet journal of rare diseases 2020; (15(1)):284 doi:10.1186/s13023-020-01544-z.

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.

Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials.

Lukina E, Balwani M, Belmatoug N, et al.

JIMD reports 2021; (57(1)):76-84 doi:10.1002/jmd2.12172.

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.

Weinreb NJ, Camelo JS, Charrow J, et al.

Molecular genetics and metabolism 2021; (132(2)):100-111 doi:10.1016/j.ymgme.2020.12.295.

Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case report.

Oto Y, Inoue T, Nagai S, et al.

Experimental and therapeutic medicine 2021; (21(3)):246 doi:10.3892/etm.2021.9677.

Hematological manifestations and complications of Gaucher disease.

Revel-Vilk S, Szer J, Zimran A

Expert review of hematology 2021; (14(4)):347-354 doi:10.1080/17474086.2021.1908120.

Health-related quality of life in children and adolescents living with Gaucher disease and their parents.

Remor E, Baldellou A

Health psychology and behavioral medicine 2018; (6(1)):79-92 doi:10.1080/21642850.2018.1462705.

TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease.

Ivanova M, Dao J, Noll L, et al.

Journal of clinical medicine 2021; (10(10)) doi:10.3390/jcm10102217.

Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment.

Paskulin LD, Starosta RT, Bertholdo D, et al.

Blood cells, molecules & diseases 2021; (90()):102591 doi:10.1016/j.bcmd.2021.102591.

Case report: Gaucher disease in trepanobiopsy of 16yo woman examined for suspected myelodysplastic syndrome.

Židlík V, Kuhn T, Hurník P, et al.

Ceskoslovenska patologie 2021; (57(2)):105-108.

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.

Pediatric non-cirrhotic portal hypertension: Endoscopic outcome and perspectives from developing nations.

Sarma MS, Seetharaman J

World journal of hepatology 2021; (13(10)):1269-1288 doi:10.4254/wjh.v13.i10.1269.

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.

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.

Kılavuz S, Basaranoglu M, Epcacan S, et al.

Metabolic brain disease 2022; (37(4)):1283-1287 doi:10.1007/s11011-022-00942-5.

[Clinical phenotype and genotype of Gaucher disease in 14 children].

Sun XY, Xue Y, Wang YP, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2022; (60(6)):527-532 doi:10.3760/cma.j.cn112140-20220228-00159.

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.

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease.

Donald A, Björkvall CK, Vellodi A, et al.

Orphanet journal of rare diseases 2022; (17(1)):234 doi:10.1186/s13023-022-02378-7.

Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan.

Koto Y, Narita A, Noto S, et al.

Orphanet journal of rare diseases 2022; (17(1)):280 doi:10.1186/s13023-022-02429-z.

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.

Physiologically-Based Pharmacokinetic Model Development, Validation, and Application for Prediction of Eliglustat Drug-Drug Interactions.

Sahasrabudhe SA, Cheng S, Al-Kofahi M, et al.

Clinical pharmacology and therapeutics 2022; (112(6)):1254-1263 doi:10.1002/cpt.2738.

Bone disease in early detected Gaucher Type I disease: A case report.

Gragnaniello V, Burlina AP, Manara R, et al.

JIMD reports 2022; (63(5)):414-419 doi:10.1002/jmd2.12314.

Gaucher Disease: An Unusual Cause of Knee Pain.

Gigis I, Pitsilos C, Samoladas E, et al.

Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews 2022; (6(10)).

Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey.

Collin-Histed T, Rosenberg A, Hopman N, Pacey J

Orphanet journal of rare diseases 2023; (18(1)):5 doi:10.1186/s13023-022-02576-3.

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.

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.

Giuffrida G, Markovic U, Condorelli A, et al.

Orphanet journal of rare diseases 2023; (18(1)):27 doi:10.1186/s13023-023-02623-7.

Gene Therapy of Sphingolipid Metabolic Disorders.

Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA

International journal of molecular sciences 2023; (24(4)) doi:10.3390/ijms24043627.

The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy.

Zimran A, Szer J, Becker-Cohen M, et al.

Journal of clinical medicine 2023; (12(6)) doi:10.3390/jcm12062220.

Massive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease.

Alam F, Singh J, Kumar N, et al.

Cardiovascular & hematological disorders drug targets 2023; (23(2)):136-140 doi:10.2174/011871529X253966230922110202.

Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease.

Kangboonruang K, Pornsukjantra T, Tong-Ngam P, et al.

Stem cell research 2023; (73()):103229 doi:10.1016/j.scr.2023.103229.

Gaucher Disease: A Glance from a Medicinal Chemistry Perspective.

Prencipe F, Barzan C, Savian C, et al.

ChemMedChem 2024; (19(10)):e202300641 doi:10.1002/cmdc.202300641.

Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience.

Cullufi P, Tomori S, Velmishi V, et al.

Frontiers in pediatrics 2024; (12()):1352179 doi:10.3389/fped.2024.1352179.

Advancements in Viral Gene Therapy for Gaucher Disease.

Kulkarni A, Chen T, Sidransky E, Han TU

Genes 2024; (15(3)) doi:10.3390/genes15030364.

A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach.

Feng S, Rcheulishvili N, Jiang X, et al.

International journal of biological sciences 2024; (20(6)):2111-2129 doi:10.7150/ijbs.87741.

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.

Elstein D, Belmatoug N, Bembi B, et al.

Journal of clinical medicine 2024; (13(12)) doi:10.3390/jcm13123588.

Imiglucerase, cholecalciferol, and bone-diet in skeletal health management of type I Gaucher disease patients: a pilot study and systematic review.

Barbato A, Vergatti A, Giaquinto A, et al.

JBMR plus 2024; (8(8)):ziae071 doi:10.1093/jbmrpl/ziae071.

Gaucher disease provides a unique window into Parkinson disease pathogenesis.

Hertz E, Chen Y, Sidransky E

Nature reviews. Neurology 2024; (20(9)):526-540 doi:10.1038/s41582-024-00999-z.

Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.

den Hollander B, Le HL, Swart EL, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108556 doi:10.1016/j.ymgme.2024.108556.

Two delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly.

Chen B, Dai W, Xu Y, et al.

Medicine 2024; (103(34)):e39354 doi:10.1097/MD.0000000000039354.

Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report.

Di Costanzo M, de Paulis N, Cannalire G, et al.

Children (Basel, Switzerland) 2024; (11(8)) doi:10.3390/children11080960.

Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model.

Duffy HBD, Byrnes C, Zhu H, et al.

JCI insight 2024; (9(21)).

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.

Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing Osteonecrosis.

D'Amore S, Poole KE, Ramaswami U, et al.

Metabolites 2024; (14(11)) doi:10.3390/metabo14110601.

Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: A prospective, open-label, single-arm, phase IV trial.

Zhang H, Xiong H, Wei C, et al.

Intractable & rare diseases research 2024; (13(4)):227-235 doi:10.5582/irdr.2024.01056.

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

Héron B, Batzios S, Mengel E, et al.

Orphanet journal of rare diseases 2024; (19(1)):459 doi:10.1186/s13023-024-03409-1.

Insights into skeletal involvement in adult Gaucher disease: a single-center experience.

Yoldaş Çelik M, Canda E, Yazıcı H, et al.

Journal of bone and mineral metabolism 2025; (43(2)):166-173 doi:10.1007/s00774-024-01573-9.

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 Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.

Zimran A, Revel-Vilk S, Dinur T, et al.

Orphanet journal of rare diseases 2025; (20(1)):43 doi:10.1186/s13023-024-03444-y.

Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.

Maines E, Franceschi R, Luppi G, et al.

Metabolites 2025; (15(7)) doi:10.3390/metabo15070427.

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.

Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease.

Revel-Vilk S, Tiomkin M, Frydman D, et al.

Journal of inherited metabolic disease 2025; (48(5)):e70091 doi:10.1002/jimd.70091.

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.

Beauregard-Lacroix É, Steffensen M, Menello C, Ficicioglu C

Molecular genetics and metabolism reports 2025; (45()):101256 doi:10.1016/j.ymgmr.2025.101256.

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.

Camou F, Serratrice C, Pettazzoni M, et al.

Orphanet journal of rare diseases 2025; (20(1)):542 doi:10.1186/s13023-025-03980-1.