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

被引:0
作者
Gaetano Giuffrida
Uros Markovic
Annalisa Condorelli
Valeria Calafiore
Daniela Nicolosi
Marianna Calagna
Stephanie Grasso
Marco Tindaro Valentino Ragusa
Jennifer Gentile
Mariasanta Napolitano
机构
[1] A.O.U. Policlinico Vittorio Emanuele,Division of Haematology
[2] Mediterranean Institute of Oncology,Oncohematology and BMT Unit
[3] University of Messina,Department of Biomedical, Dental, Morphological and Functional Imaging Sciences
[4] University of Catania,Postgraduate School of Hematology
[5] Sanofi Genzyme,Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties
[6] University of Palermo,undefined
来源
Orphanet Journal of Rare Diseases | / 18卷
关键词
Biomarker; Gaucher disease; Glucosylsphingosine; Lyso-Gb1;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 38 条
  • [21] LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population
    Irun, Pilar
    Cebolla, Jorge J.
    Lopez de Frutos, Laura
    De Castro-Oros, Isabel
    Roca-Espiau, Mercedes
    Giraldo, Pilar
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2020, 58 (05) : 798 - 809
  • [22] Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients
    Menkovic, Iskren
    Boutin, Michel
    Alayoubi, Abdulfatah
    Curado, Filipa
    Bauer, Peter
    Mercier, Francois E.
    Rivard, Georges-Etienne
    Auray-Blais, Christiane
    BIOANALYSIS, 2022, 14 (04) : 223 - 240
  • [23] 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, M. Judith
    Foster, Meredith C.
    Ji, Allena J.
    Zajdel, Marianne B.
    Cox, Gerald F.
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (03)
  • [24] Plasma lyso-Gb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes
    Nowak, Albina
    Mechtler, Thomas P.
    Desnick, Robert J.
    Kasper, David C.
    MOLECULAR GENETICS AND METABOLISM, 2017, 120 (1-2) : S103 - S104
  • [25] Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach
    Menkovic, Iskren
    Boutin, Michel
    Alayoubi, Abdulfatah
    Mercier, Francois E.
    Rivard, Georges-Etienne
    Auray-Blais, Christiane
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (21) : 1 - 21
  • [26] Cathepsin K as a biomarker of bone involvement in type 1 Gaucher disease
    Bobillo Lobato, Joaquin
    Duran Parejo, Pilar
    Nunez Vazquez, Ramiro J.
    Jimenez Jimenez, Luis M.
    MEDICINA CLINICA, 2015, 145 (07): : 281 - 287
  • [27] Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients
    Cebolla, Jorge J.
    Giraldo, Pilar
    Gomez, Jessica
    Montoto, Carmen
    Gervas-Arruga, Javier
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (16)
  • [28] Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature
    Kabacam, Gokhan
    Kabacam, Gulsah
    Topcuoglu, Pervin
    Kuzu, Isinsu
    Arat, Mutlu
    TURKISH JOURNAL OF HEMATOLOGY, 2010, 27 (03) : 190 - 195
  • [29] One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease
    Hong, Xinying
    Gelb, Michael H.
    MOLECULAR GENETICS AND METABOLISM, 2018, 125 (03) : 292 - 294
  • [30] A systematic review on effectiveness and safety of eliglustat for type 1 Gaucher disease
    Smid, Bouwien E.
    Hollak, Carla E. M.
    EXPERT OPINION ON ORPHAN DRUGS, 2014, 2 (05): : 523 - 529