{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T17:19:47Z","timestamp":1790443187486,"version":"4.1.0"},"reference-count":57,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T00:00:00Z","timestamp":1695340800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Health of the Czech Republic","award":["RVO VFN 64165\/2012"],"award-info":[{"award-number":["RVO VFN 64165\/2012"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>A personalized treatment decision for Gaucher disease (GD) patients should be based on relevant markers that are specific to GD, play a direct role in GD pathophysiology, exhibit low genetic variation, reflect the therapy, and can be used for all patients. Thirty-four GD patients treated with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) were analyzed for platelet count, chitotriosidase, and tartrate-resistant acid phosphatase activity in plasma samples, and quantitative measurement of Lyso-Gb1 was performed in dried blood spots. In our ERT and SRT study cohorts, plasma lyso-GL1 correlated significantly with chito-triosidase (ERT: r = 0.55, p &lt; 0.001; SRT: r = 0.83, p &lt; 0.001) and TRAP (ERT: r = 0.34, p &lt; 0.001; SRT: r = 0.88, p &lt; 0.001), irrespective of treatment method. A platelet count increase was associated with a Lyso-Gb1 decrease in both treatment groups (ERT: p = 0.021; SRT: p = 0.028). The association of Lyso-Gb1 with evaluated markers was stronger in the SRT cohort. Our results indicate that ERT and SRT in combination or in a switch manner could offer the potential of individual drug effectiveness for particular GD symptoms. Combination of the key biomarker of GD, Lyso-Gb1, with other biomarkers can offer improved response assessment to long-term therapy.<\/jats:p>","DOI":"10.3390\/ijms241914440","type":"journal-article","created":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T10:36:26Z","timestamp":1695551786000},"page":"14440","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients"],"prefix":"10.3390","volume":"24","author":[{"given":"V\u011bra","family":"Malinov\u00e1","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Poup\u011btov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"\u0158eboun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Dvo\u0159\u00e1kov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Reichmannov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"\u0160vandov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8962-1345","authenticated-orcid":false,"given":"Lenka","family":"Murga\u0161ov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David C.","family":"Kasper","sequence":"additional","affiliation":[{"name":"ARCHIMEDlife Laboratories, 1110 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5883-9509","authenticated-orcid":false,"given":"Martin","family":"Magner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1001\/archpedi.160.6.603","article-title":"The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis","volume":"160","author":"Kaplan","year":"2006","journal-title":"Arch. Pediatr. Adolescent Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1002\/ajh.24491","article-title":"Glucosylsphingosine is a key biomarker of Gaucher disease","volume":"91","author":"Murugesan","year":"2016","journal-title":"Am. J. Hematol."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., and Brassier, A. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18020441"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.parkreldis.2016.12.014","article-title":"A \u201cdose\u201d effect of mutations in the GBA gene on Parkinson\u2019s disease phenotype","volume":"36","author":"Thaler","year":"2017","journal-title":"Park. Relat. Disord."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1002\/mds.29342","article-title":"Polygenic Parkinson\u2019s Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease","volume":"38","author":"Blauwendraat","year":"2023","journal-title":"Mov. Disord."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Roshan Lal, T., and Sidransky, E. (2017). The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases, 5.","DOI":"10.3390\/diseases5010010"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s10545-010-9093-7","article-title":"The birth prevalence of lysosomal storage disorders in the Czech Republic: Comparison with data in different populations","volume":"33","author":"Kozich","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_8","first-page":"855","article-title":"High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews","volume":"49","author":"Zimran","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ymgme.2017.12.001","article-title":"Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial","volume":"123","author":"Charrow","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"S6","DOI":"10.1002\/ajh.24055","article-title":"Understanding the natural history of Gaucher disease","volume":"90","author":"Mistry","year":"2015","journal-title":"Am. J. Hematol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1007\/s10545-008-0868-z","article-title":"Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry","volume":"31","author":"Fairley","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1172\/JCI117084","article-title":"Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease","volume":"93","author":"Hollak","year":"1994","journal-title":"J. Clin. Investig."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"S81","DOI":"10.21037\/atm.2018.10.69","article-title":"Biomarker combination is necessary for the assessment of Gaucher disease?","volume":"6","author":"Giraldo","year":"2018","journal-title":"Ann. Transl. Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"25680","DOI":"10.1074\/jbc.273.40.25680","article-title":"The human chitotriosidase gene. Nature of inherited enzyme deficiency","volume":"273","author":"Boot","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"100729","DOI":"10.1016\/j.ymgmr.2021.100729","article-title":"The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease","volume":"27","author":"Stiles","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1111\/j.1471-4159.1982.tb07950.x","article-title":"Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease","volume":"39","author":"Nilsson","year":"1982","journal-title":"J. Neurochem."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1056\/NEJMoa1508808","article-title":"Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma","volume":"374","author":"Nair","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1182\/blood-2011-05-352971","article-title":"Elevated plasma glucosylsphingosine in Gaucher disease: Relation to phenotype, storage cell markers, and therapeutic response","volume":"118","author":"Dekker","year":"2011","journal-title":"Blood"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.cccn.2004.02.018","article-title":"Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy","volume":"344","author":"Henderson","year":"2004","journal-title":"Clin. Chim. Acta"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1007\/s10545-011-9308-6","article-title":"Biomarkers in the diagnosis of lysosomal storage disorders: Proteins, lipids, and inhibodies","volume":"34","author":"Aerts","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Revel-Vilk, S., Fuller, M., and Zimran, A. (2020). Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21197159"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1006\/bcmd.1999.0256","article-title":"Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: Mutation profile and description of six novel mutant alleles","volume":"25","author":"Zeman","year":"1999","journal-title":"Blood Cells, Mol. Dis."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Rolfs, A., Giese, A.K., Grittner, U., Mascher, D., Elstein, D., Zimran, A., B\u00f6ttcher, T., Lukas, J., H\u00fcbner, R., and G\u00f6lnitz, U. (2013). Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0079732"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"S45","DOI":"10.1016\/j.ymgme.2018.12.097","article-title":"Evaluation of disease burden and therapy modifications using glucosylsphingosine (lyso-GL1) in Gaucher disease","volume":"126","author":"Dao","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Hurvitz, N., Dinur, T., Becker-Cohen, M., Cozma, C., Hovakimyan, M., Oppermann, S., Demuth, L., Rolfs, A., Abramov, A., and Zimran, A. (2019). Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20123033"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"S117","DOI":"10.1016\/j.ymgme.2018.12.297","article-title":"Correlations between glucosylsphingosine (lyso-GL-1) and baseline disease severity as well as response to treatment in two clinical trials of eliglustat in treatment-na\u00efve adults with type 1 Gaucher disease","volume":"126","author":"Peterschmitt","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1023\/A:1012492429191","article-title":"Clinically relevant therapeutic endpoints in type I Gaucher disease","volume":"24","author":"Hollak","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.bcmd.2005.05.005","article-title":"Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease","volume":"35","author":"Deegan","year":"2005","journal-title":"Blood Cell Mol. Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1016\/S0140-6736(00)02161-9","article-title":"Novel oral treatment of Gaucher\u2019s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis","volume":"355","author":"Cox","year":"2000","journal-title":"Lancet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"4651","DOI":"10.1182\/blood-2010-02-268649","article-title":"Phase 1\/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience","volume":"115","author":"Zimran","year":"2010","journal-title":"Blood"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1007\/s10545-014-9711-x","article-title":"Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy","volume":"37","author":"Hendriks","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1186\/s13643-017-0483-x","article-title":"Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: Protocol for a systematic review with meta-analysis of individual participant data","volume":"6","author":"Raskovalova","year":"2017","journal-title":"Syst. Rev."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/1750-1172-9-95","article-title":"Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model","volume":"9","author":"Vigan","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_34","first-page":"158","article-title":"Ph\u00e9notype clinique et spectre mutationnel de la maladie de Gaucher p\u00e9diatrique en Tunisie","volume":"88","author":"Riahi","year":"2010","journal-title":"Tunis. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/sj.gene.6364025","article-title":"A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: Role of parasitic diseases and environmental conditions","volume":"4","author":"Malaguarnera","year":"2003","journal-title":"Genes. Immun."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1002\/humu.20524","article-title":"Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations\u2014Implications for diagnosis and therapeutic monitoring","volume":"28","author":"Grace","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.bcmd.2007.06.013","article-title":"Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity","volume":"39","author":"Lee","year":"2007","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"5678","DOI":"10.1111\/j.1742-4658.2009.07259.x","article-title":"Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates","volume":"276","author":"Bussink","year":"2009","journal-title":"FEBS J."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"E140","DOI":"10.1002\/ajh.25074","article-title":"Glucosylsphingosine is a reliable response biomarker in Gaucher disease","volume":"93","author":"Arkadir","year":"2018","journal-title":"Am. J. Hematol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ymgme.2017.08.005","article-title":"Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naive and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials","volume":"122","author":"Elstein","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajh.25300","article-title":"Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial","volume":"94","author":"Lukina","year":"2019","journal-title":"Am. J. Hematol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1159\/000469457","article-title":"Age dependency of serum acid phosphatase in controls and Gaucher patients","volume":"32","author":"Magalhaes","year":"1984","journal-title":"Enzyme"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1111\/j.1399-0004.2008.00978.x","article-title":"Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: Results of a 48-month longitudinal cohort study","volume":"73","author":"Sims","year":"2008","journal-title":"Clin. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.bcmd.2005.05.007","article-title":"Miglustat (NB-DNJ) works as a chaperone for mutated acid b-glucosidase in cells transfected with several Gaucher disease mutations","volume":"35","author":"Alfonso","year":"2005","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"877","DOI":"10.2147\/TCRM.S5777","article-title":"New therapies in the management of Niemann-Pick type C disease: Clinical utility of miglustat","volume":"5","author":"Wraith","year":"2009","journal-title":"Ther. Clin. Risk Manag."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/S0022-2275(20)39895-3","article-title":"Structural and stereochemical studies of potent inhibitors of glucosylceramide synthase and tumor cell growth","volume":"36","author":"Abe","year":"1995","journal-title":"J. Lipid Res."},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Leng, H., Zhang, H., Li, L., Zhang, S., Wang, Y., Ersek, A., Morris, E., Sezgin, E., Lee, Y.H., and Li, Y. (2021). The glycosphingolipid inhibitor eliglustat inhibits autophagy in osteoclasts to increase bone mass and reduce myeloma bone disease. bioRxiv.","DOI":"10.1101\/2021.02.05.429906"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"R156","DOI":"10.1186\/ar3111","article-title":"Bone events and evolution of biologic markers in Gaucher disease before and during treatment","volume":"12","author":"Stirnemann","year":"2010","journal-title":"Arthritis Res. Ther."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"2194","DOI":"10.1210\/jc.2011-0162","article-title":"Markers of bone turnover in Gaucher disease: Modeling the evolution of bone disease","volume":"96","author":"Lips","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_50","first-page":"703","article-title":"Short-term effect of miglustat in every day clinical use in treatment-na\u00efve or previously treated patients with type 1 Gaucher\u2019s disease","volume":"91","author":"Giraldo","year":"2006","journal-title":"Haematologica"},{"key":"ref_51","first-page":"541","article-title":"Successful treatment of bone marrow failure in Gaucher\u2019s disease with low-dose modified glucocerebrosidase","volume":"83","author":"Mistry","year":"1992","journal-title":"Q. J. Med."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.bcmd.2011.09.009","article-title":"Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: Early Access Program results from Jerusalem","volume":"48","author":"Elstein","year":"2012","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.ymgmr.2017.06.003","article-title":"Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy","volume":"12","author":"Ha","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.cca.2015.07.026","article-title":"Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool","volume":"450","author":"Fuller","year":"2015","journal-title":"Clin. Chim. Acta"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"E561","DOI":"10.1002\/ajh.24816","article-title":"Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease","volume":"92","author":"Franco","year":"2017","journal-title":"Am. J. Hematol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.ymgme.2018.02.004","article-title":"Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes\u2014A statistical insight","volume":"123","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_57","unstructured":"Cohen, J., Cohen, P., West, S.G., and Aiken, L.S. (2003). Applied Multiple Regression\/Correlation Analysis for the Behavioural Sciences, Lawrence Earlbaum Associates. [3rd ed.]."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/19\/14440\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:55:55Z","timestamp":1760129755000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/19\/14440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,22]]},"references-count":57,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2023,10]]}},"alternative-id":["ijms241914440"],"URL":"https:\/\/doi.org\/10.3390\/ijms241914440","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,22]]}}}