{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T19:31:00Z","timestamp":1773084660778,"version":"3.50.1"},"reference-count":57,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T00:00:00Z","timestamp":1662595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi","award":["SGZ-2018-1199"],"award-info":[{"award-number":["SGZ-2018-1199"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Alterations in the levels of serum sphingolipids and phospholipids have been reported in Gaucher disease and in Parkinson\u2019s disease, suggesting a potential role of these lipids as biomarkers. This project\u2019s objective is to detect novel associations and novel candidate biomarkers in the largest Spanish Gaucher and Parkinson diseases of the Iberian Peninsula. For that, 278 participants were included: 100 sporadic Parkinson\u2019s patients, 70 Gaucher patients, 15 GBA1-mutation-carrier Parkinson\u2019s patients and 93 controls. A serum lipidomics array including 10 phospholipid groups, 368 species, was performed using high-performance liquid chromatography\u2013mass spectrometry. Lipid levels were compared between groups via multiple-regression analyses controlling for clinical and demographic parameters. Additionally, lipid levels were compared within the Gaucher and Parkinson\u2019s groups controlling for medication and\/or disease severity. Results were controlled for robustness by filtering of non-detectable lipid values. There was an increase in the levels of phosphatidylcholine, with a simultaneous decrease in lyso-phosphatidylcholine, in the Gaucher, Parkinson\u2019s and GBA1-mutation-carrier Parkinson\u2019s patients vs. controls. Phosphatidylethanolamine, lyso- and plasmalogen-phosphatidylethanolamine were also increased in Gaucher and Parkinson\u2019s. Gaucher patients also showed an increase in lyso-phosphatidylserine and phosphatidylglycerol. While in the Gaucher and Parkinson\u2019s groups, velaglucerase alpha and dopamine agonists, respectively, showed positive associations with the lipid changes, miglustat treatment in Gaucher patients normalized the altered phosphatidylcholine\/lyso-phosphatidylcholine ratio. In conclusion, Gaucher and Parkinson\u2019s patients showed changes in various serum phospholipid levels when compared with healthy controls, further supporting the role of such lipids in disease development and, possibly, as putative biomarkers. This hypothesis was reinforced by the normalizing effect of miglustat, and by controlling for data robustness, even though the limited number of participants, especially in the sub-distribution by treatment groups in GD requires validation in a larger number of patients.<\/jats:p>","DOI":"10.3390\/ijms231810387","type":"journal-article","created":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T07:05:56Z","timestamp":1662620756000},"page":"10387","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson\u2019s Disease"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1369-6225","authenticated-orcid":false,"given":"Laura","family":"L\u00f3pez de Frutos","sequence":"first","affiliation":[{"name":"Fundaci\u00f3n para el Estudio y la Terap\u00e9utica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain"},{"name":"GIIS-012, Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n), Unidad de Investigaci\u00f3n Traslacional, Hospital Universitario Miguel Servet, 50009 Zaragoza, Spain"}]},{"given":"Francisco","family":"Almeida","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649004 Lisbon, Portugal"}]},{"given":"Jessica","family":"Murillo-Saich","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2281-5748","authenticated-orcid":false,"given":"Vasco A.","family":"Concei\u00e7\u00e3o","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649004 Lisbon, Portugal"}]},{"given":"Monica","family":"Guma","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA"},{"name":"VA Medical Center, San Diego, CA 92093, USA"},{"name":"Department of Medicine, Autonomous University of Barcelona, 08193 Bellaterra, Spain"}]},{"given":"Oswald","family":"Queheberger","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8791-1901","authenticated-orcid":false,"given":"Pilar","family":"Giraldo","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n para el Estudio y la Terap\u00e9utica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain"}]},{"given":"Gabriel","family":"Miltenberger-Miltenyi","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649004 Lisbon, Portugal"},{"name":"Laborat\u00f3rio de Gen\u00e9tica, Faculdade de Medicina, Universidade de Lisboa, 1649004 Lisbon, Portugal"},{"name":"Department of Neurology, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen, 80539 Munich, Germany"},{"name":"Genetics Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, 4835-044 Guimar\u00e3es, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,8]]},"reference":[{"key":"ref_1","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_2","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1515\/cclm-2019-0949","article-title":"LC-MS\/MS Analysis of Plasma Glucosylsphingosine as a Biomarker for Diagnosis and Follow-up Monitoring in Gaucher Disease in the Spanish Population","volume":"58","author":"Cebolla","year":"2020","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Simonetta, I., Tuttolomondo, A., Daidone, M., and Pinto, A. (2020). Biomarkers in Anderson\u2013Fabry Disease. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21218080"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ymgme.2013.11.012","article-title":"Lyso-Sphingomyelin Is Elevated in Dried Blood Spots of Niemann-Pick B Patients","volume":"111","author":"Chuang","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ejim.2013.09.006","article-title":"Gaucher Disease: A Diagnostic Challenge for Internists","volume":"25","author":"Cassinerio","year":"2014","journal-title":"Eur. J. Intern. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1023\/A:1012496514170","article-title":"Gaucher Disease: Understanding the Molecular Pathogenesis of Sphingolipidoses","volume":"24","author":"Cox","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"James, W.D., Elston, D.D.M., Treat, J.R., Rosenbach, M.A., and Neuhaus, I.M. (2019). Errors in Metabolism. Andrews\u2019 Diseases of the Skin, Elsevier.","DOI":"10.1016\/B978-0-323-44196-4.00026-8"},{"key":"ref_8","first-page":"7","article-title":"Gaucher Disease: New Expanded Classification Emphasizing Neurological Features","volume":"13","author":"Alaei","year":"2019","journal-title":"Iran. J. Child Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2022.03.001","article-title":"The Diagnosis and Management of Gaucher Disease in Pediatric Patients: Where Do We Go from Here?","volume":"136","author":"Weinreb","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"ref_10","unstructured":"Agencia Espa\u00f1ola del Medicamento y Productos Sanitarios (2020). Vpriv(R). Ficha T\u00e9cnica o Resumen de Las Caracter\u00edsticas Del Producto."},{"key":"ref_11","unstructured":"Agencia Espa\u00f1ola del Medicamento y Productos Sanitarios (2012). Cerezyme(R). Ficha T\u00e9cnica o Resumen de Las Caracter\u00edsticas Del Producto."},{"key":"ref_12","unstructured":"Agencia Europea del Medicamento (2018). Zavesca(R). Ficha T\u00e9cnica o Resumen de Las Caracter\u00edsticas Del Producto."},{"key":"ref_13","unstructured":"Agencia Espa\u00f1ola del Medicamento y Productos Sanitarios (2020). Cerdelga(R). Ficha T\u00e9cnica o Resumen de Las Caracter\u00edsticas Del Producto."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1080\/00498250601094543","article-title":"The Pharmacokinetics and Tissue Distribution of the Glucosylceramide Synthase Inhibitor Miglustat in the Rat","volume":"37","author":"Treiber","year":"2007","journal-title":"Xenobiotica"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/ana.21491","article-title":"Randomized, Controlled Trial of Miglustat in Gaucher\u2019s Disease Type 3","volume":"64","author":"Schiffmann","year":"2008","journal-title":"Ann. Neurol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.ymgme.2004.11.007","article-title":"Gaucher Disease and Parkinsonism","volume":"84","author":"Sidransky","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multi-Center Analysis of Glucocerebrosidase Mutations in Parkinson Disease","volume":"361","author":"Sidransky","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"ref_18","first-page":"694764","article-title":"Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers","volume":"1","author":"Marsili","year":"2021","journal-title":"Front. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.parkreldis.2017.08.026","article-title":"Serum Lipid Alterations in GBA-Associated Parkinson\u2019s Disease","volume":"44","author":"Guedes","year":"2017","journal-title":"Parkinsonism Relat. Disord."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Signorelli, P., Conte, C., and Albi, E. (2021). The Multiple Roles of Sphingomyelin in Parkinson\u2019s Disease. Biomolecules, 11.","DOI":"10.3390\/biom11091311"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Wu, G., Jiang, Z., Pu, Y., Chen, S., Wang, T., Wang, Y., Xu, X., Wang, S., Jin, M., and Yao, Y. (2022). Serum Short-Chain Fatty Acids and Its Correlation with Motor and Non-Motor Symptoms in Parkinson\u2019s Disease Patients. BMC Neurol., 22.","DOI":"10.1186\/s12883-021-02544-7"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Hwangbo, N., Zhang, X., Raftery, D., Gu, H., Hu, S.C., Montine, T.J., Quinn, J.F., Chung, K.A., Hiller, A.L., and Wang, D. (2022). Predictive Modeling of Alzheimer\u2019s and Parkinson\u2019s Disease Using Metabolomic and Lipidomic Profiles from Cerebrospinal Fluid. Metabolites, 12.","DOI":"10.3390\/metabo12040277"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1038\/s41593-021-00944-z","article-title":"Multi-Omic Analysis of Selectively Vulnerable Motor Neuron Subtypes Implicates Altered Lipid Metabolism in ALS","volume":"24","author":"Lee","year":"2021","journal-title":"Nat. Neurosci."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"2011","DOI":"10.1371\/journal.pone.0104988","article-title":"Serum Sphingolipids Reflect the Severity of Chronic HBV Infection and Predict the Mortality of HBV-Acute-on-Chronic Liver Failure","volume":"9","author":"Qu","year":"2014","journal-title":"PLoS ONE"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/nrendo.2016.169","article-title":"Sphingolipids and Phospholipids in Insulin Resistance and Related Metabolic Disorders","volume":"13","author":"Meikle","year":"2017","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.bbalip.2013.11.004","article-title":"Gaucher Disease and Fabry Disease: New Markers and Insights in Pathophysiology for Two Distinct Glycosphingolipidoses","volume":"1841","author":"Ferraz","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1093\/rheumatology\/kez545","article-title":"Increased Monohexosylceramide Levels in the Serum of Established Rheumatoid Arthritis Patients","volume":"59","author":"Saville","year":"2020","journal-title":"Rheumatology"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Mileti\u0107 Vukajlovi\u0107, J., Drakuli\u0107, D., Peji\u0107, S., Ili\u0107, T.V., Stefanovi\u0107, A., Petkovi\u0107, M., and Schiller, J. (2020). Increased Plasma Phosphatidylcholine\/Lysophosphatidylcholine Ratios in Patients with Parkinson\u2019s Disease. Rapid Commun. Mass Spectrom., 34.","DOI":"10.1002\/rcm.8595"},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Law, S.H., Chan, M.L., Marathe, G.K., Parveen, F., Chen, C.H., and Ke, L.Y. (2019). An Updated Review of Lysophosphatidylcholine Metabolism in Human Diseases. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20051149"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"633022","DOI":"10.3389\/fnins.2021.633022","article-title":"Lipoprotein-Associated Phospholipase A2 Is a Risk Factor for Patients With Parkinson\u2019s Disease","volume":"15","author":"Wu","year":"2021","journal-title":"Front. Neurosci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1038\/s41593-019-0423-2","article-title":"Lewy Pathology in Parkinson\u2019s Disease Consists of Crowded Organelles and Lipid Membranes","volume":"22","author":"Shahmoradian","year":"2019","journal-title":"Nat. Neurosci."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"11195","DOI":"10.1074\/jbc.RA118.002780","article-title":"Effects of Phosphatidylcholine Membrane Fluidity on the Conformation and Aggregation of N-Terminally Acetylated \u03b1-Synuclein","volume":"293","author":"Jiang","year":"2018","journal-title":"J. Biol. Chem."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Wood, P.L., Tippireddy, S., Feriante, J., and Woltjer, R.L. (2018). Augmented Frontal Cortex Diacylglycerol Levels in Parkinson\u2019s Disease and Lewy Body Disease. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0191815"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"51","DOI":"10.3389\/fnagi.2018.00051","article-title":"Promising Metabolite Profiles in the Plasma and CSF of Early Clinical Parkinson\u2019s Disease","volume":"10","author":"Stoessel","year":"2018","journal-title":"Front. Aging Neurosci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1073\/pnas.80.7.2063","article-title":"Dopamine Stimulation of Phosphatidylcholine (Lecithin) Biosynthesis in Rat Brain Neurons","volume":"80","author":"Leprohon","year":"1983","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Krishnan, B., Genzer, K.M., Pollandt, S.W., Liu, J., Gallagher, J.P., and Shinnick-Gallagher, P. (2011). Dopamine-Induced Plasticity, Phospholipase D (PLD) Activity and Cocaine-Cue Behavior Depend on PLD-Linked Metabotropic Glutamate Receptors in Amygdala. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0025639"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1124\/mol.58.2.455","article-title":"The D2s Dopamine Receptor Stimulates Phospholipase D Activity: A Novel Signaling Pathway for Dopamine","volume":"58","author":"Senogles","year":"2000","journal-title":"Mol. Pharmacol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.bbalip.2010.04.004","article-title":"Phospholipase D in Brain Function and Alzheimer\u2019s Disease","volume":"1801","author":"Oliveira","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1023\/B:NERE.0000026394.92363.ee","article-title":"Inhibitory Effects of Lysophosphatidylcholine on the Dopaminergic System","volume":"29","author":"Lee","year":"2004","journal-title":"Neurochem. Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.neuro.2004.07.009","article-title":"Lysophosphatidylcholine Decreases Locomotor Activities and Dopamine Turnover Rate in Rats","volume":"26","author":"Lee","year":"2005","journal-title":"Neurotoxicology"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1194\/jlr.R300016-JLR200","article-title":"Phospholipase A2 in the Central Nervous System: Implications for Neurodegenerative Diseases","volume":"45","author":"Sun","year":"2004","journal-title":"J. Lipid. Res."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"560","DOI":"10.5483\/BMBRep.2008.41.8.560","article-title":"Phospholipase A2, Reactive Oxygen Species, and Lipid Peroxidation In CNS Pathologies","volume":"41","author":"Adibhatla","year":"2008","journal-title":"BMB Rep."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/ana.21415","article-title":"Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism","volume":"65","author":"Bhatia","year":"2009","journal-title":"Ann. Neurol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"3285","DOI":"10.1093\/brain\/awp293","article-title":"Phosphorus and Proton Magnetic Resonance Spectroscopy Demonstrates Mitochondrial Dysfunction in Early and Advanced Parkinson\u2019s Disease","volume":"132","author":"Hattingen","year":"2009","journal-title":"Brain"},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Chang, K.H., Cheng, M.L., Tang, H.Y., Huang, C.Y., Wu, H.C., and Chen, C.M. (2022). Alterations of Sphingolipid and Phospholipid Pathways and Ornithine Level in the Plasma as Biomarkers of Parkinson\u2019s Disease. Cells, 11.","DOI":"10.3390\/cells11030395"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.ymgme.2007.11.011","article-title":"Glucosylceramide Accumulation Is Not Confined to the Lysosome in Fibroblasts from Patients with Gaucher Disease","volume":"93","author":"Fuller","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1814","DOI":"10.1096\/fj.02-0149fje","article-title":"Phosphatidylcholine Synthesis Is Elevated in Neuronal Models of Gaucher Disease Due to Direct Activation of CTP:Phosphocholine Cytidylyltransferase by Glucosylceramide","volume":"16","author":"Bodennec","year":"2002","journal-title":"FASEB J."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1146\/annurev.bi.64.070195.001531","article-title":"Eukaryotic Phospholipid Biosynthesis","volume":"64","author":"Kent","year":"1995","journal-title":"Annu. Rev. Biochem."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"31698","DOI":"10.1074\/jbc.M011698200","article-title":"Identification and Functional Analysis of Splice Variants of the Germ Cell Soluble Adenylyl Cyclase","volume":"276","author":"Jaiswal","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.bcmd.2007.10.004","article-title":"Plasma Lipids Are Altered in Gaucher Disease: Biochemical Markers to Evaluate Therapeutic Intervention","volume":"40","author":"Meikle","year":"2008","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Fecarotta, S., Romano, A., della Casa, R., del Giudice, E., Bruschini, D., Mansi, G., Bembi, B., Dardis, A., Fiumara, A., and di Rocco, M. (2015). Long Term Follow-up to Evaluate the Efficacy of Miglustat Treatment in Italian Patients with Niemann-Pick Disease Type C. Orphanet. J. Rare Dis., 10.","DOI":"10.1186\/s13023-015-0240-y"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","article-title":"Miglustat for Treatment of Niemann-Pick C Disease: A Randomised Controlled Study","volume":"6","author":"Patterson","year":"2007","journal-title":"Lancet Neurol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.atherosclerosis.2009.10.015","article-title":"Changes in the Atherogenic Profile of Patients with Type 1 Gaucher Disease after Miglustat Therapy","volume":"209","author":"Puzo","year":"2010","journal-title":"Atherosclerosis"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.nbd.2004.05.002","article-title":"Treatment with Miglustat Reverses the Lipid-Trafficking Defect in Niemann-Pick Disease Type C","volume":"16","author":"Lachmann","year":"2004","journal-title":"Neurobiol. Dis."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.3758\/BRM.41.4.1149","article-title":"Statistical Power Analyses Using G*Power 3.1: Tests for Correlation and Regression Analyses","volume":"41","author":"Erdfelder","year":"2009","journal-title":"Behav. Res. Methods"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"175","DOI":"10.3758\/BF03193146","article-title":"G*Power 3: A Flexible Statistical Power Analysis Program for the Social, Behavioral, and Biomedical Sciences","volume":"39","author":"Faul","year":"2007","journal-title":"Behav. Res. Methods"},{"key":"ref_57","first-page":"158","article-title":"Leukocyte Beta-Glucosidase in Homozygotes and Heterozygotes for Gaucher Disease","volume":"32","author":"Raghavan","year":"1980","journal-title":"Am. J. Hum. Genet."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/18\/10387\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:27:33Z","timestamp":1760142453000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/18\/10387"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,8]]},"references-count":57,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2022,9]]}},"alternative-id":["ijms231810387"],"URL":"https:\/\/doi.org\/10.3390\/ijms231810387","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,8]]}}}