Literature DB >> 15695324

Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns.

Ding Wang1, Bhramara Eadala, Martin Sadilek, Nestor A Chamoles, Frantisek Turecek, C Ronald Scott, Michael H Gelb.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15695324     DOI： 10.1373/clinchem.2004.047167

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


× No keyword cloud information.
  18 in total

Review 1.  Gene therapy for mucopolysaccharidosis.

Authors:  Katherine P Ponder; Mark E Haskins
Journal:  Expert Opin Biol Ther       Date:  2007-09       Impact factor: 4.388

2.  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

3.  Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.

Authors:  David J Coman; Ian M Hayes; Veronica Collins; Margaret Sahhar; J Ed Wraith; Martin B Delatycki
Journal:  JIMD Rep       Date:  2011-06-22

4.  Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.

Authors:  Dae-Hyun Ko; Sun-Hee Jun; Kyoung Un Park; Sang Hoon Song; Jin Q Kim; Junghan Song
Journal:  J Inherit Metab Dis       Date:  2011-02-22       Impact factor: 4.982

5.  Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.

Authors:  Ashley D Dierenfeld; Michael F McEntee; Carole A Vogler; Charles H Vite; Agnes H Chen; Merry Passage; Steven Le; Sahil Shah; Jackie K Jens; Elizabeth M Snella; Karen L Kline; Jennifer D Parkes; Wendy A Ware; Lori E Moran; Amanda J Fales-Williams; Jane A Wengert; R David Whitley; Daniel M Betts; Amy M Boal; Elizabeth A Riedesel; William Gross; N Matthew Ellinwood; Patricia I Dickson
Journal:  Sci Transl Med       Date:  2010-12-01       Impact factor: 17.956

6.  Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.

Authors:  Michael H Gelb; Frantisek Turecek; C Ron Scott; Nestor A Chamoles
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 7.  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

8.  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

Review 9.  Newborn screening and diagnosis of mucopolysaccharidoses.

Authors:  Shunji Tomatsu; Tadashi Fujii; Masaru Fukushi; Toshihiro Oguma; Tsutomu Shimada; Miho Maeda; Kazuhiro Kida; Yuniko Shibata; Hideyuki Futatsumori; Adriana M Montaño; Robert W Mason; Seiji Yamaguchi; Yasuyuki Suzuki; Tadao Orii
Journal:  Mol Genet Metab       Date:  2013-06-21       Impact factor: 4.797

10.  Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.

Authors:  Chunli Yu; Qin Sun; Hui Zhou
Journal:  N Am J Med Sci (Boston)       Date:  2013
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.