Lysosphingolipids in dried blood spots as biomarkers for lysosomal diseases

被引:0
|
作者
Polo, Giulia [1 ]
Kolamunnage, Thilini B. [1 ]
Burlina, Alessandro P. [2 ]
Furlan, Francesca [1 ]
Celato, Andrea [1 ]
Del Rizzo, Monica [1 ]
Giordano, Laura [1 ]
Burlina, Alberto B. [1 ]
机构
[1] Univ Hosp Padua, Padua, Italy
[2] St Bassiano Hosp, Bassano Del Grappa, Italy
关键词
D O I
10.1016/j.ymgme.2015.12.409
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
251
引用
收藏
页码:S96 / S96
页数:1
相关论文
共 50 条
  • [21] The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes
    Elbin, Carole S.
    Olivova, Petra
    Marashio, Carla A.
    Cooper, Samantha K.
    Cullen, Emmaline
    Keutzer, Joan M.
    Zhang, X. Kate
    CLINICA CHIMICA ACTA, 2011, 412 (13-14) : 1207 - 1212
  • [22] Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots
    Supriya, Manjunath
    De, Tanima
    Christopher, Rita
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2018, 32 (01)
  • [23] Dried blood spots enzymatic assay: The impact of the method in the diagnosis of lysosomal storage disorder
    Blanco, M.
    Amartino, H.
    Niizawa, M.
    Gaggioli, D.
    Carozza, P.
    Schenone, A.
    Szlago, M.
    CLINICAL THERAPEUTICS, 2007, 29 : S131 - S131
  • [24] Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots
    Hong, Xinying
    Chen, Yicheng
    Barr, Marianne
    Gelb, Michael H.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 33
  • [25] Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience
    Karen B Müller
    Mayra DB Rodrigues
    Vanessa G Pereira
    Ana M Martins
    Vânia D'Almeida
    Diagnostic Pathology, 5
  • [26] Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience
    Mueller, Karen B.
    Rodrigues, Mayra D. B.
    Pereira, Vanessa G.
    Martins, Ana M.
    D'Almeida, Vania
    DIAGNOSTIC PATHOLOGY, 2010, 5
  • [27] Correlation analysis between lysosomal enzyme activities and the different types of leukocytes in dried blood spots
    Frabasil, Joaquin
    Velasquez Rivas, Dana
    Bertot, Gustavo M.
    Gualco, Luciana
    Ricardo, Carabajal
    Carozza, Patricia
    Gaggioli, Daniela
    Colmenares, Gabriela
    Sokn, Silvia
    MOLECULAR GENETICS AND METABOLISM, 2022, 135 (02) : S43 - S43
  • [28] Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots
    Gelb, Michael H.
    Lukacs, Zoltan
    Ranieri, Enzo
    Schielen, Peter C. J. I.
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2019, 5 (01)
  • [29] DRIED BLOOD SPOTS (DBS) FOR -GLUCOSIDASI ENZYME ACTIVITY IN PATIENTS WITH HAEMATOLOGICAL DISEASES
    Sgherza, N.
    Quarta, A.
    Pasanisi, A.
    Solfrizzi, M. P.
    Coppi, M. R.
    Spina, A.
    Merchionne, F.
    De Candia, M. S.
    Romano, A.
    Pastore, D.
    HAEMATOLOGICA, 2019, 104 : 107 - 108
  • [30] Evaluation of dried-blood spots and a hematocrit-independent procedure in lysosomal diseases screening using multiplexed tandem mass spectrometry assays
    Ducatez, Franklin
    Pilon, Carine
    Ferey, Justine
    Marret, Stephane
    Bekri, Soumeya
    Tebani, Abdellah
    CLINICA CHIMICA ACTA, 2023, 542