Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry

Dajnoki, Angéla; Fekete, György; Keutzer, Joan; Orsini, Joseph J.; Jesús, Víctor R. De; Chien, Yin‐Hsiu; Hwu, Wuh‐Liang; Lukács, Zoltán; Mühl, Adolf; Zhang, X. Kate; Bodamer, Olaf A.

doi:10.1016/j.cca.2010.03.009

Cited by 47 publications

(37 citation statements)

References 14 publications

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“…All patient samples were stored at room temperature and were analyzed within 3 weeks after sampling. Sample integrity and enzyme activity was not impaired by this procedure (for GLA: Dajnoki et al 2010;for GAA: Dajnoki et al 2008; for GBA: Legnini et al 2011a; for ASM: Legnini et al 2011b). …”

Section: Samplesmentioning

confidence: 84%

Newborn Screening for Lysosomal Storage Disorders in Hungary

et al. 2012

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Section: Samplesmentioning

confidence: 84%

Newborn Screening for Lysosomal Storage Disorders in Hungary

et al. 2012

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“…Prospective screening for LSDs has to be accompanied by genetic confirmatory testing [e.g., Krabbe screening in New York state (9 )]. Results of this and other studies have demonstrated that enzymatic assays that use MS are robust and accurate for the detection of known symptomatic LSD patients (2,11,12 ). The rarity of some of these diseases will, however, necessitate more extensive population-based studies to accurately evaluate the true frequency of both false-negative and false-positive results that occur with the use of this biochemical screening approach.…”

Section: Discussionmentioning

confidence: 99%

“…Other US states such as Washington (10 ) and countries such as Austria started the first pilot studies for multiplex MS/MS screening, in which a variety of LSDs are screened within a single assay (11)(12)(13). For future implementation of high-throughput LSD assays in routine clinical diagnostics, sample handling and MS analysis must be simplified; specifically, sample pretreatment, separation, and finally detection must become more integrated (14 ).…”

confidence: 99%

Simplified Newborn Screening Protocol for Lysosomal Storage Disorders

et al. 2011

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BACKGROUND:Interest in lysosomal storage disorders, a collection of more than 40 inherited metabolic disorders, has increased because of new therapy options such as enzyme replacement, stem cell transplantation, and substrate reduction therapy. We developed a highthroughput protocol that simplifies analytical challenges such as complex sample preparation and potential interference from excess residual substrate associated with previously reported assays.

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“…Early intervention requires identification of patients at a very early age, before clinical features have become evident, i.e., by newborn screening (NBS) (Marsden and Levy 2010;Zhou et al 2011). NBS has been reported for a number of lysosomal storage disorders including Pompe disease (Chien et al 2008;Dajnoki et al 2008), Fabry disease (Dajnoki et al 2010), and Krabbe disease (Orsini et al 2009), but not for MPS II. Enzymatic assays for measuring the IDS activity in dried blood spots have been described in fluorometric (Oemardien et al 2011;Tolun et al 2012) and in tandem mass spectrometric (Wolfe et al 2011) platforms.…”

Section: Introductionmentioning

confidence: 99%