Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience

被引：0
|
作者：
Karen B Müller
Mayra DB Rodrigues
Vanessa G Pereira
Ana M Martins
Vânia D'Almeida
机构：
[1] Universidade Federal de São Paulo (UNIFESP),Department of Pediatrics
[2] Universidade Federal de São Paulo (UNIFESP),Department of Biosciences
来源：
Diagnostic Pathology | / 5卷
关键词：
Enzyme Replacement Therapy; Pompe Disease; Lysosomal Storage Disease; Newborn Screening Program; Mucopolysaccharidosis Type;
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 50 条
  • [11] Measurements of Growth Hormone using dried blood spots in preterm neonates: reference values and longitudinal evaluation
    Federico, Giacchetti
    Orsenigo, Chiara
    Vizzari, Giulia
    Tarricone, Silvia
    Vantaggiato, Chiara
    Rodari, Giulia
    Napolitano, Filomena
    Sangiorgio, Andrea
    Morniroli, Daniela
    Colombo, Lorenzo
    Profka, Eriselda
    Collini, Valentina
    Risio, Alessandro
    Gianni, Maria Lorella
    Arosio, Maura
    Mantovani, Giovanna
    Mosca, Fabio
    Ceriotti, Ferruccio
    Vidali, Matteo
    Giavoli, Claudia
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 257 - 258
  • [12] Lysosphingolipids in dried blood spots as biomarkers for lysosomal diseases
    Polo, Giulia
    Kolamunnage, Thilini B.
    Burlina, Alessandro P.
    Furlan, Francesca
    Celato, Andrea
    Del Rizzo, Monica
    Giordano, Laura
    Burlina, Alberto B.
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (02) : S96 - S96
  • [13] MULTIPLEX DIRECT ASSAY OF LYSOSOMAL ENZYMES IN DRIED BLOOD SPOTS USING TANDEM MASS SPECTROMETRY: APPLICATION TO NEWBORN SCREENING
    Gelb, M. H.
    Wang, D.
    Desikan, R.
    Li, Y.
    Turecek, F.
    Scott, C. R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 15 - 15
  • [14] DETERMINATION OF THE REFERENCE INTERVAL VALUES FOR THE ACTIVITY OF SIX LYSOSOMAL ENZYMES IN A BRAZILIAN POPULATION - DIAGNOSIS OF LYSOSOMAL STORAGE DISEASES
    Mueller, K. B.
    Rodrigues, M. D. B.
    Pereira, V. G.
    Martins, A. M.
    D'Almeida, V.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 73 - 73
  • [15] 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
  • [16] 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)
  • [17] Implementation of internal quality control for the determination of the activity of lysosomal enzymes in dried blood samples
    Moreno, Patricia
    Uribe Ardila, Alfredo
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S98 - S98
  • [18] Chitotriosidase activity in dried blood spots of a Brazilian sample:: Determining deficient and increased activities
    Rodrigues, M. D. B.
    Mueller, K. B.
    Martins, A. M.
    D'Aimeida, V
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 96 - 96
  • [19] Validation of dried blood spots samples to diagnose Mucopolysaccharidosis type VI in a Brazilian specialized center
    D'Almeida, Vania
    Muller, Karen
    Yamamoto, Joyce
    Kerstenetzky, Marcelo
    Martins, Ana Maria
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (02) : S13 - S13
  • [20] REFERENCE VALUES AND CORRELATION BETWEEN STANDARD TECHNIQUES AND DRIED BLOOD SPOTS FOR GAUCHER DISEASE DIAGNOSIS
    Goldim, M.
    Garcia, C. S.
    Coelho, J. C.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S199 - S199
12345