Second-tier glycosaminoglycan analysis in dried blood spots by the endogenous non-reducing end method provides the best approach for reducing false positives in newborn screening of all sub-types of mucopolysaccharidoses

被引:0
|
作者
Gelb, Michael H. [1 ]
Herbst, Zackary M. [1 ]
Fuller, Maria [2 ]
机构
[1] Univ Washington, Seattle, WA USA
[2] SA Pathol, Adelaide, SA, Australia
关键词
D O I
10.1016/j.ymgme.2023.107836
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
97
引用
收藏
页数:1
相关论文
共 5 条
  • [1] Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results
    Saville, Jennifer T.
    Herbst, Zackary M.
    Gelb, Michael H.
    Fuller, Maria
    MOLECULAR GENETICS AND METABOLISM, 2023, 140 (03)
  • [2] Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
    Herbst, Zackary M.
    Hong, Xinying
    Urdaneta, Leslie
    Klein, Terri
    Waggoner, Christine
    Liao, Hsuan-Chieh
    Kubaski, Francyne
    Giugliani, Roberto
    Fuller, Maria
    Gelb, Michael H.
    MOLECULAR GENETICS AND METABOLISM, 2023, 140 (1-2)
  • [3] Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans
    Herbst, Zackary M.
    Hong, Xinying
    Sadilek, Martin
    Fuller, Maria
    Gelb, Michael H.
    MOLECULAR GENETICS AND METABOLISM, 2023, 140 (03)
  • [4] High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis
    Herbst, Zackary M.
    Kubaski, Francyne
    Pollard, Laura
    Basheeruddin, Khaja
    Burton, Barbara
    Orsini, Joseph
    Henderson, Matthew
    Chakraborty, Pranesh
    Gelb, Michael H.
    MOLECULAR GENETICS AND METABOLISM, 2025, 144 (02)
  • [5] Rapid second tier test for measurement of 3-ohpropionic and methylmalonic acids on dried blood spots: A new approach for reducing false-positive rate for propionylcarnitine during expanded newborn screening by LC-MS/MS
    La Marca, G.
    Malvagia, S.
    Funghini, S.
    Pasquini, E.
    Innocenti, M.
    Donati, M. A.
    Zammarchi, E.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 5 - 5