Literature DB >> 18812173

An improved high-throughput dried blood spot screening method for Gaucher disease.

Petra Olivova, Emmaline Cullen, Mariah Titlow, Helmut Kallwass, John Barranger, Kate Zhang, Joan Keutzer.   

Abstract

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Year:  2008        PMID： 18812173     DOI： 10.1016/j.cca.2008.08.024

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  17 in total

1.  Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation.

Authors:  Harsh Shah; Christopher Liong; Oren A Levy; Cheryl Waters; Stanley Fahn; Karen Marder; Un J Kang; Pavlina Wolf; Petra Oliva; Kate Zhang; Roy N Alcalay; Jose Gutierrez
Journal:  Stroke       Date:  2018-08       Impact factor: 7.914

2.  Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.

Authors:  Roy N Alcalay; Oren A Levy; Cheryl C Waters; Stanley Fahn; Blair Ford; Sheng-Han Kuo; Pietro Mazzoni; Michael W Pauciulo; William C Nichols; Ziv Gan-Or; Guy A Rouleau; Wendy K Chung; Pavlina Wolf; Petra Oliva; Joan Keutzer; Karen Marder; Xiaokui Zhang
Journal:  Brain       Date:  2015-06-27       Impact factor: 13.501

3.  A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

Authors:  Pramod K Mistry; Maria Domenica Cappellini; Elena Lukina; Hayri Ozsan; Sara Mach Pascual; Hanna Rosenbaum; Maria Helena Solano; Zachary Spigelman; Jesús Villarrubia; Nora Patricia Watman; Gero Massenkeil
Journal:  Am J Hematol       Date:  2011-01       Impact factor: 10.047

4.  SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.

Authors:  Roy N Alcalay; Victoria Mallett; Benoît Vanderperre; Omid Tavassoly; Yves Dauvilliers; Richard Y J Wu; Jennifer A Ruskey; Claire S Leblond; Amirthagowri Ambalavanan; Sandra B Laurent; Dan Spiegelman; Alexandre Dionne-Laporte; Christopher Liong; Oren A Levy; Stanley Fahn; Cheryl Waters; Sheng-Han Kuo; Wendy K Chung; Blair Ford; Karen S Marder; Un Jung Kang; Sharon Hassin-Baer; Lior Greenbaum; Jean-Francois Trempe; Pavlina Wolf; Petra Oliva; Xiaokui Kate Zhang; Lorraine N Clark; Melanie Langlois; Patrick A Dion; Edward A Fon; Nicolas Dupre; Guy A Rouleau; Ziv Gan-Or
Journal:  Mov Disord       Date:  2019-02-20       Impact factor: 10.338

5.  Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.

Authors:  Alfredo Uribe; Roberto Giugliani
Journal:  JIMD Rep       Date:  2013-04-23

Review 6.  Clinical manifestations and management of Gaucher disease.

Authors:  Silvia Linari; Giancarlo Castaman
Journal:  Clin Cases Miner Bone Metab       Date:  2015-10-26

7.  Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

Authors:  Pavlina Wolf; Roy N Alcalay; Christopher Liong; Emmaline Cullen; Michael W Pauciulo; William C Nichols; Ziv Gan-Or; Wendy K Chung; Tina Faulkner; Christopher Bentis; Robert J Pomponio; Xiwen Ma; X Kate Zhang; Joan M Keutzer; Petra Oliva
Journal:  Mol Genet Metab       Date:  2017-10-23       Impact factor: 4.797

8.  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

9.  Munchausen syndrome by proxy mimicking as Gaucher disease.

Authors:  Mohammed Al-Owain; Hamad Al-Zaidan; Amal Al-Hashem; Hoda Kattan; Abdullah Al-Dowaish
Journal:  Eur J Pediatr       Date:  2009-12-29       Impact factor: 3.183

10.  Alpha galactosidase A activity in Parkinson's disease.

Authors:  R N Alcalay; P Wolf; O A Levy; U J Kang; C Waters; S Fahn; B Ford; S H Kuo; N Vanegas; H Shah; C Liong; S Narayan; M W Pauciulo; W C Nichols; Z Gan-Or; G A Rouleau; W K Chung; P Oliva; J Keutzer; K Marder; X K Zhang
Journal:  Neurobiol Dis       Date:  2018-02-02       Impact factor: 5.996
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