Literature DB >> 14981030

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.

Yijun Li1, Knut Brockmann, Frantisek Turecek, C Ronald Scott, Michael H Gelb.   

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Year:  2004        PMID： 14981030     DOI： 10.1373/clinchem.2003.028381

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  32 in total

1.  Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Authors:  Yijun Li; C Ronald Scott; Nestor A Chamoles; Ahmad Ghavami; B Mario Pinto; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2004-08-03       Impact factor: 8.327

2.  Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).

Authors:  Brian J Wolfe; Sophie Blanchard; Martin Sadilek; C Ronald Scott; Frantisek Turecek; Michael H Gelb
Journal:  Anal Chem       Date:  2010-12-30       Impact factor: 6.986

3.  Newborn screening in North America.

Authors:  Bradford L Therrell; John Adams
Journal:  J Inherit Metab Dis       Date:  2007-07-23       Impact factor: 4.982

Review 4.  Newborn screening for Krabbe's disease.

Authors:  Joseph J Orsini; Carlos A Saavedra-Matiz; Michael H Gelb; Michele Caggana
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

Review 5.  Newborn Screening for Lysosomal Storage Disorders.

Authors:  Roy W A Peake; Olaf A Bodamer
Journal:  J Pediatr Genet       Date:  2016-12-02

6.  Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.

Authors:  Thomas P Mechtler; Thomas F Metz; Hannes G Müller; Katharina Ostermann; Rene Ratschmann; Victor R De Jesus; Bori Shushan; Joseph M Di Bussolo; Joseph L Herman; Kurt R Herkner; David C Kasper
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2012-09-24       Impact factor: 3.205

Review 7.  Newborn screening and renal disease: where we have been; where we are now; where we are going.

Authors:  J Lawrence Merritt; David Askenazi; Si Houn Hahn
Journal:  Pediatr Nephrol       Date:  2011-09-27       Impact factor: 3.714

Review 8.  Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Authors:  Monique Piraud; Magali Pettazzoni; Pamela Lavoie; Séverine Ruet; Cécile Pagan; David Cheillan; Philippe Latour; Christine Vianey-Saban; Christiane Auray-Blais; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2018-03-19       Impact factor: 4.982

9.  Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry.

Authors:  X Kate Zhang; Carole S Elbin; Frantisek Turecek; Ronald Scott; Wei-Lien Chuang; Joan M Keutzer; Michael Gelb
Journal:  Methods Mol Biol       Date:  2010

10.  Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.

Authors:  Sophie Blanchard; Martin Sadilek; C Ronald Scott; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2008-12       Impact factor: 8.327
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