Quantitation of a Plasma Biomarker Profile for the Early Detection of Gaucher Disease type 1 Patients

References

• Regenboog M , van KuilenburgAB, VerheijJ, SwinkelsDW, HollakCE. Hyperferritinemia and iron metabolism in Gaucher disease: potential pathophysiological implications. Blood Rev.30(6), 431–437 (2016).
   PubMed Web of Science ®Google Scholar
• Ruchlemer R , MittelmanM, ZimranA. Gaucher disease, myelodysplastic syndrome and ICUS. Blood Cells Mol. Dis.80, 102373 (2020).
   PubMed Web of Science ®Google Scholar
• Stirnemann J , BelmatougN, CamouFet al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int. J. Mol. Sci.18(2), 441 (2017).
   PubMed Web of Science ®Google Scholar
• Sidransky E . Gaucher disease: insights from a rare Mendelian disorder. Discov. Med.14(77), 273–281 (2012).
   PubMed Web of Science ®Google Scholar
• Zimran A , Gonzalez-RodriguezDE, AbrahamovAet al. Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease. Blood Cells Mol. Dis.54(1), 9–16 (2015).
   PubMed Web of Science ®Google Scholar
• van Dussen L , BiegstraatenM, DijkgraafMG, HollakCE. Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications. Orphanet. J. Rare Dis.9, 112 (2014).
   PubMed Web of Science ®Google Scholar
• Bennett LL , MohanD. Gaucher disease and its treatment options. Ann. Pharmacother.47(9), 1182–1193 (2013).
   PubMed Web of Science ®Google Scholar
• Lachmann RH . Substrate-reduction therapy with miglustat for glycosphingolipid storage disorders affecting the brain. Expert Rev. Endocrinol. Metab.4(3), 217–224 (2009).
   PubMedGoogle Scholar
• Lukina E , WatmanN, ArreguinEAet al. A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood116(6), 893–899 (2010).
   PubMed Web of Science ®Google Scholar
• Mistry PK , DeeganP, VellodiA, ColeJA, YehM, WeinrebNJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br. J. Haematol.147(4), 561–570 (2009).
   PubMed Web of Science ®Google Scholar
• Barney AM , DandaS, AbrahamAet al. Clinicogenetic profile, treatment modalities, and mortality predictors of Gaucher disease: a 15-year retrospective study. Public Health Genomics.24(3–4), 139–148 (2021).
   PubMed Web of Science ®Google Scholar
• Nalysnyk L , RotellaP, SimeoneJC, HamedA, WeinrebN. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology22(2), 65–73 (2017).
   PubMed Web of Science ®Google Scholar
• Thomas AS , MehtaAB, HughesDA. Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists. Blood Cells Mol. Dis.50(3), 212–217 (2013).
   PubMed Web of Science ®Google Scholar
• Gary SE , RyanE, StewardAM, SidranskyE. Recent advances in the diagnosis and management of Gaucher disease. Expert Rev. Endocrinol. Metab.13(2), 107–118 (2018).
   PubMed Web of Science ®Google Scholar
• Giraldo P , Lópezde Frutos L, CebollaJJ. Biomarker combination is necessary for the assessment of Gaucher disease?Ann. Transl. Med.6(Suppl. 1), S81 (2018).
   PubMedGoogle Scholar
• Bernstein KE , KhanZ, GianiJF, CaoDY, BernsteinEA, ShenXZ. Angiotensin-converting enzyme in innate and adaptive immunity. Nat. Rev. Nephrol.14(5), 325–336 (2018).
   PubMed Web of Science ®Google Scholar
• van Dussen L , LipsP, EvertsVEet al. Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease. J. Clin. Endocrinol. Metab.96(7), 2194–2205 (2011).
   PubMed Web of Science ®Google Scholar
• Dekker N , van DussenL, HollakCEet al. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood118(16), e118–e127 (2011).
   PubMed Web of Science ®Google Scholar
• Hurvitz N , DinurT, Becker-CohenMet al. Glucosylsphingosine (lyso-Gb1) as a biomarker for monitoring treated and untreated children with Gaucher disease. Int. J. Mol. Sci.20(12), 3033 (2019).
   PubMed Web of Science ®Google Scholar
• Mirzaian M , WisseP, FerrazMJet al. et Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard. Blood Cells Mol. Dis.54(4), 307–314
   PubMed Web of Science ®Google Scholar
• Menkovic I , BoutinM, AlayoubiA, MercierFE, RivardGÉ, Auray-BlaisC. Identification of a reliable biomarker profile for the diagnosis of Gaucher disease type 1 patients using a mass spectrometry-based metabolomic approach. Int. J. Mol. Sci.21(21), 7869 (2020).
   PubMed Web of Science ®Google Scholar
• Basit A , PiomelliD, ArmirottiA. Rapid evaluation of 25 key sphingolipids and phosphosphingolipids in human plasma by LC-MS/MS. Anal. Bioanal. Chem.407(17), 5189–5198 (2015).
   PubMed Web of Science ®Google Scholar
• Kopytova AE , RychkovGN, NikolaevMAet al. Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism. Parkinsonism Relat. Disord.84, 112–121 (2021).
   PubMed Web of Science ®Google Scholar
• Polo G , BurlinaAP, KolamunnageTBet al. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. Clin. Chem. Lab. Med.55(3), 403–414 (2017).
   PubMed Web of Science ®Google Scholar
• Weinreb NJ , CappelliniMD, CoxTMet al. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet. Med.12(1), 44–51 (2010).
   PubMed Web of Science ®Google Scholar
• Schuchman EH , DesnickRJ. Types A and B Niemann-Pick disease. Mol. Genet. Metab.120(1–2), 27–33 (2017).
   PubMed Web of Science ®Google Scholar
• Maekawa M , IwahoriA, ManoN. Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry. J. Pharm. Biomed. Anal.191, 113622 (2020).
   PubMed Web of Science ®Google Scholar
• Akoglu H . User's guide to correlation coefficients. Turk. J. Emerg. Med.18(3), 91–93 (2018).
   PubMed Web of Science ®Google Scholar
• Cozma C , CullufiP, KrampGet al. Treatment efficiency in Gaucher patients can reliably be monitored by quantification of lyso-Gb1 concentrations in dried blood spots. Int. J. Mol. Sci.21(13), 4577 (2020).
   PubMed Web of Science ®Google Scholar