Výsledky vyhledávání - "Frantisek, Turecek"

Akademický článek

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

Autor: Susan Elliott, Norman Buroker, Jason J. Cournoyer, Anna M. Potier, Joseph D. Trometer, Carole Elbin, Mack J. Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H. Gelb, C. Ronald Scott

Publikováno v: Data in Brief, Vol 8, Iss , Pp 915-924 (2016)

In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, N

Externí odkaz: https://doaj.org/article/c73301248a7d40c9a109b27c9bec71a8

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Akademický článek

Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs

Autor: Michael H. Gelb, C. Ronald Scott, Frantisek Turecek, Hsuan-Chieh Liao

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 80-81 (2017)

Externí odkaz: https://doaj.org/article/29d746cbc42741ea92fb41dd77662bf3

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Multiplexed Measurement of Enzyme Activities Associated with Seven Lysosomal Storage Disorders from a Dried Blood Spot via LC-MS/MS

Autor: Smith, Sara E, Diperna, Jim, Vranish, Alyssa, Potier, Anna, Trometer, Joe, Tsun Au, Yeung : Perkinelmer, Liu, Yang, Yi, Fan, Chennamaneni, Kumar, Zdenk Spacil, Kumar, Arun Babu, Liao, Joyce, Gelb, Michael H, C Ronald Scott, Frantisek Turecek

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a47405eb20776153b1c83b7a7b4ce20f

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Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

Autor: Brian J, Wolfe, Sophie, Blanchard, Martin, Sadilek, C Ronald, Scott, Frantisek, Turecek, Michael H, Gelb

Publikováno v: Analytical Chemistry. 83:1152-1156

We have developed a tandem mass spectrometry based assay of iduronate-2-sulfatase (IdS) activity for the neonatal detection of mucopolysaccharidosis II (MPS-II, Hunter Syndrome). The assay uses a newly designed synthetic substrate (IdS-S) consisting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ff754ee74dfefb1c83921c079e5b964
https://doi.org/10.1021/ac102777s

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Surface acoustic wave nebulization device with dual interdigitated transducers improves SAWN-MS performance

Autor: Yue, Huang, Scott R, Heron, Alicia M, Clark, J Scott, Edgar, Sung Hwan, Yoon, David P A, Kilgour, Frantisek, Turecek, Alberto, Aliseda, David R, Goodlett

Publikováno v: Journal of mass spectrometry : JMS. 51(6)

We compared mass spectrometric (MS) performance of surface acoustic wave nebulization (SAWN) generated by a single interdigitated transducer (IDT) designed to produce a progressive wave (PW) to one with a dual IDT that can in theory generate standing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b143554989bd1c902f89b779dbbd1293
https://pubmed.ncbi.nlm.nih.gov/27270865

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Combining UV photodissociation with electron transfer for peptide structure analysis

Autor: Christopher J, Shaffer, Ales, Marek, Robert, Pepin, Kristina, Slovakova, Frantisek, Turecek

Publikováno v: Journal of mass spectrometry : JMS. 50(3)

The combination of near-UV photodissociation with electron transfer and collisional activation provides a new tool for structure investigation of isolated peptide ions and reactive intermediates. Two new types of pulse experiments are reported. In th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7f540f7631e0bc88771593d0799ea02d
https://pubmed.ncbi.nlm.nih.gov/25800183

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Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening

Autor: Frantisek, Turecek, C Ronald, Scott, Michael H, Gelb

Publikováno v: Methods in molecular biology (Clifton, N.J.). 359

Tandem mass spectrometry has been used for determinations of enzyme activities in biological samples. Activities in rehydrated dried blood spots of lysosomal enzymes glucocerebrosidase, acid sphingomyelinase, galactocerebroside beta-galactosidase, ac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::46cfc162a90be937b01c22102307acc1
https://pubmed.ncbi.nlm.nih.gov/17484116

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