Literature DB >> 22227323

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Adviye A Tolun1, Carrie Graham, Qun Shi, Ramakrishna S Sista, Tong Wang, Allen E Eckhardt, Vamsee K Pamula, David S Millington, Deeksha S Bali.   

Abstract

Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagnosis of MPS II using dried blood spots (DBS). The assay compared well with a recently reported digital microfluidic method, from which it was adapted. Results show that this DBS assay is robust and reproducible using both technologies. Copyright Â
© 2012 Elsevier Inc. All rights reserved.

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Year:  2011        PMID： 22227323     DOI： 10.1016/j.ymgme.2011.12.011

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  10 in total

1.  Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Authors:  Laura M Pollard; Julie R Jones; Tim C Wood
Journal:  J Inherit Metab Dis       Date:  2012-09-14       Impact factor: 4.982

2.  A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment.

Authors:  Mitra Azadeh; Luying Pan; Yongchang Qiu; Ruben Boado
Journal:  JIMD Rep       Date:  2017-06-23

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.  Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts.

Authors:  Hamid Khaledi; Michael H Gelb
Journal:  Anal Chem       Date:  2020-08-13       Impact factor: 6.986

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.  Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.

Authors:  Anirudh J Ullal; David S Millington; Deeksha S Bali
Journal:  Mol Genet Metab Rep       Date:  2014-10-22

7.  Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.

Authors:  Anirudh J Ullal; David S Millington; Deeksha S Bali
Journal:  Mol Genet Metab Rep       Date:  2014-10-22

8.  Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.

Authors:  Mykhaylo Demydchuk; Chris H Hill; Aiwu Zhou; Gábor Bunkóczi; Penelope E Stein; Denis Marchesan; Janet E Deane; Randy J Read
Journal:  Nat Commun       Date:  2017-06-08       Impact factor: 14.919

Review 9.  Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.

Authors:  Rajendra Singh; Shaileja Chopra; Carrie Graham; Melissa Langer; Rainer Ng; Anirudh J Ullal; Vamsee K Pamula
Journal:  Diagnostics (Basel)       Date:  2020-05-11

10.  Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).

Authors:  Molly Stapleton; Francyne Kubaski; Robert W Mason; Hiromasa Yabe; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Expert Opin Orphan Drugs       Date:  2017-03-08       Impact factor: 0.694
  10 in total

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