Literature DB >> 21492868

Newborn bloodspot screening for lysosomal storage disorders.

Hui Zhou1, Paul Fernhoff, Robert F Vogt.   

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Year:  2011        PMID： 21492868     DOI： 10.1016/j.jpeds.2011.02.026

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  6 in total

1.  Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.

Authors:  Ramakrishna S Sista; Allen E Eckhardt; Tong Wang; Carrie Graham; Jeremy L Rouse; Scott M Norton; Vijay Srinivasan; Michael G Pollack; Adviye A Tolun; Deeksha Bali; David S Millington; Vamsee K Pamula
Journal:  Clin Chem       Date:  2011-08-22       Impact factor: 8.327

2.  Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.

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

3.  Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Authors:  Ramakrishna S Sista; Tong Wang; Ning Wu; Carrie Graham; Allen Eckhardt; Theodore Winger; Vijay Srinivasan; Deeksha Bali; David S Millington; Vamsee K Pamula
Journal:  Clin Chim Acta       Date:  2013-05-07       Impact factor: 3.786

4.  Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.

Authors:  Ramakrishna S Sista; Tong Wang; Ning Wu; Carrie Graham; Allen Eckhardt; Deeksha Bali; David S Millington; Vamsee K Pamula
Journal:  Mol Genet Metab       Date:  2013-03-24       Impact factor: 4.797

5.  Newborn screening for hunter disease: a small-scale feasibility study.

Authors:  G J G Ruijter; D A Goudriaan; A M Boer; J Van den Bosch; A T Van der Ploeg; L H Elvers; S S Weinreich; A J Reuser
Journal:  JIMD Rep       Date:  2013-11-23

6.  Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

Authors:  Roger Lawrence; Jillian R Brown; Kanar Al-Mafraji; William C Lamanna; James R Beitel; Geert-Jan Boons; Jeffrey D Esko; Brett E Crawford
Journal:  Nat Chem Biol       Date:  2012-01-08       Impact factor: 15.040
  6 in total

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