A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

被引:0
作者
Shuan-Pei Lin
Hsiang-Yu Lin
Tuen-Jen Wang
Chia-Ying Chang
Chia-Hui Lin
Sung-Fa Huang
Chia-Chen Tsai
Hsuan-Liang Liu
Joan Keutzer
Chih-Kuang Chuang
机构
[1] Mackay Memorial Hospital,Division of Genetics and Metabolism, Department of Medical Research
[2] Mackay Memorial Hospital,Department of Pediatrics
[3] Mackay Memorial Hospital,Department of Laboratory Medicine
[4] National Taipei University of Technology,Institute of Biotechnology
[5] Fu-Jen Catholic University,College of Medicine
[6] Mackay Junior College of Medicine,Department of Early Childhood Care and Education
[7] Mackay Medical College,Department of Medicine
[8] Taipei Medical University,Department of Biochemistry, School of Medical Laboratory Science and Biotechnology
[9] Mackay Memorial Hospital,Department of Pediatrics
[10] National Yang-Ming University,Institute of Clinical Medicine
[11] Genzyme Corporation,Scientific and Medical Affairs
来源
Orphanet Journal of Rare Diseases | / 8卷
关键词
Mucopolysaccharidosis type I; α-L-iduronidase; Dried blood spots; Newborn screening;
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
  • [1] A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
    Lin, Shuan-Pei
    Lin, Hsiang-Yu
    Wang, Tuen-Jen
    Chang, Chia-Ying
    Lin, Chia-Hui
    Huang, Sung-Fa
    Tsai, Chia-Chen
    Liu, Hsuan-Liang
    Keutzer, Joan
    Chuang, Chih-Kuang
    ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
  • [2] Newborn screening of mucopolysaccharidosis type I
    Donati, Maria Alice
    Pasquini, Elisabetta
    Spada, Marco
    Polo, Giulia
    Burlina, Alberto
    CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES, 2022, 59 (04) : 257 - 277
  • [3] Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
    Dorley, M. Christine
    Dizikes, George J.
    Pickens, Charles Austin
    Cuthbert, Carla
    Basheeruddin, Khaja
    Gulamali-Majid, Fizza
    Hetterich, Paul
    Hietala, Amy
    Kelsey, Ashley
    Klug, Tracy
    Lesko, Barbara
    Mills, Michelle
    Moloney, Shawn
    Neogi, Partha
    Orsini, Joseph
    Singer, Douglas
    Petritis, Konstantinos
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2023, 9 (01)
  • [4] Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening
    de Ru, Minke H.
    Bouwman, Machtelt G.
    Wijburg, Frits A.
    van Zwieten, Myra C. B.
    MOLECULAR GENETICS AND METABOLISM, 2012, 107 (03) : 501 - 507
  • [5] Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations
    Bosfield, Kerri
    Regier, Debra S.
    Viall, Sarah
    Hicks, Rebecca
    Shur, Natasha
    Grant, Christina L.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (01) : 134 - 140
  • [6] The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I
    Polo, Giulia
    Gueraldi, Daniela
    Giuliani, Antonella
    Rubert, Laura
    Cazzorla, Chiara
    Salviati, Leonardo
    Marzollo, Antonio
    Biffi, Alessandra
    Burlina, Alessandro P.
    Burlina, Alberto B.
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2020, 58 (12) : 2063 - 2072
  • [7] Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
    Peck, Dawn S.
    Lacey, Jean M.
    White, Amy L.
    Pino, Gisele
    Studinski, April L.
    Fisher, Rachel
    Ahmad, Ayesha
    Spencer, Linda
    Viall, Sarah
    Shallow, Natalie
    Siemon, Amy
    Hamm, J. Austin
    Murray, Brianna K.
    Jones, Kelly L.
    Gavrilov, Dimitar
    Oglesbee, Devin
    Raymond, Kimiyo
    Matern, Dietrich
    Rinaldo, Piero
    Tortorelli, Silvia
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (01)
  • [8] Newborn screening for mucopolysaccharidosis type II: Lessons learned
    Burton, Barbara K.
    Shively, Vera
    Quadri, Allegra
    Warn, Lauren
    Burton, Jennifer
    Grange, Dorothy K.
    Christensen, Katherine
    Groepper, Daniel
    Ashbaugh, Laura
    Ehrhardt, Joan
    Basheeruddin, Khaja
    MOLECULAR GENETICS AND METABOLISM, 2023, 140 (1-2)
  • [9] Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
    Burton, Barbara K.
    Hickey, Rachel
    Hitchins, Lauren
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (03)
  • [10] Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening
    Alsharhan, Hind
    Haider, Mohammad Z.
    Qadoura, Bann
    Ayed, Mariam
    Dhaunsi, Gursev S.
    Alkandari, Hessa
    FRONTIERS IN PEDIATRICS, 2024, 12