Literature DB >> 18957564

Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots.

Mohd A F Tan, Caroline J Dean, John J Hopwood, Peter J Meikle.   

Abstract

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Year:  2008        PMID： 18957564     DOI： 10.1373/clinchem.2008.108456

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


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  9 in total

1.  Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.

Authors:  Xinying Hong; Arun Babu Kumar; Jessica Daiker; Fan Yi; Martin Sadilek; Fabiola De Mattia; Francesca Fumagalli; Valeria Calbi; Roberta Damiano; Maria Della Bona; Giancarlo la Marca; Adeline L Vanderver; Amy T Waldman; Laura Adang; Omar Sherbini; Sarah Woidill; Teryn Suhr; Joanne Kurtzberg; Maria L Beltran-Quintero; Maria Escolar; Alessandro Aiuti; Alan Finglas; Amber Olsen; Michael H Gelb
Journal:  Anal Chem       Date:  2020-04-16       Impact factor: 6.986

2.  Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI.

Authors:  Arun Babu Kumar; Zdenek Spacil; Farideh Ghomashchi; Sophia Masi; Tomomi Sumida; Makoto Ito; Frantisek Turecek; C Ronald Scott; Michael H Gelb
Journal:  Clin Chim Acta       Date:  2015-08-15       Impact factor: 3.786

Review 3.  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

4.  Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.

Authors:  Arun Babu Kumar; Sophia Masi; Farideh Ghomashchi; Naveen Kumar Chennamaneni; Makoto Ito; C Ronald Scott; Frantisek Turecek; Michael H Gelb; Zdenek Spacil
Journal:  Clin Chem       Date:  2015-09-14       Impact factor: 8.327

5.  Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.

Authors:  Zdenek Spacil; Arun Babu Kumar; Hsuan-Chieh Liao; Christiane Auray-Blais; Samantha Stark; Teryn R Suhr; C Ronald Scott; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2015-11-19       Impact factor: 8.327

Review 6.  Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

Authors:  Johannes M F G Aerts; Wouter W Kallemeijn; Wouter Wegdam; Maria Joao Ferraz; Marielle J van Breemen; Nick Dekker; Gertjan Kramer; Ben J Poorthuis; Johanna E M Groener; Josanne Cox-Brinkman; Saskia M Rombach; Carla E M Hollak; Gabor E Linthorst; Martin D Witte; Henrik Gold; Gijs A van der Marel; Herman S Overkleeft; Rolf G Boot
Journal:  J Inherit Metab Dis       Date:  2011-03-29       Impact factor: 4.982

7.  Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study.

Authors:  Chih-Kuang Chuang; Hsiang-Yu Lin; Tuan-Jen Wang; Sung-Fa Huang; Shuan-Pei Lin
Journal:  BMJ Open       Date:  2017-07-13       Impact factor: 2.692

8.  Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.

Authors:  Peter C J I Schielen; Evelien A Kemper; Michael H Gelb
Journal:  Int J Neonatal Screen       Date:  2017-03-29

9.  Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.

Authors:  Francyne Kubaski; Zackary M Herbst; Maira Graeff Burin; Kristiane Michelin-Tirelli; Franciele B Trapp; Rejane Gus; Alice B O Netto; Ana Carolina Brusius-Facchin; Sandra Leistner-Segal; Maria Teresa Sanseverino; Carolina Moura Fischinger de Souza; Matheus V M B Wilke; Thiago Oliveira; Jose A A Magalhães; Roberto Giugliani
Journal:  JIMD Rep       Date:  2022-01-19
  9 in total

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