LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 2 of total 2

Search options

  1. Article: Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.

    Laeremans, Hilde / Turner, Charles / Andersson, Tommy / de Juan, Jose Angel Cocho / Gerrard, Adam / Heiner-Fokkema, M Rebecca / Herebian, Diran / Janzen, Nils / la Marca, Giancarlo / Rudebeck, Mattias

    JIMD reports

    2020  Volume 53, Issue 1, Page(s) 90–102

    Abstract: Background: Nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of ... ...

    Abstract Background: Nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both SA and nitisinone for disease monitoring and optimization of treatment. Analysis of dried blood spots (DBS) rather than plasma samples is a convenient method, but interlaboratory differences and comparability of DBS to serum/plasma may be issues to consider.
    Methods: Eight laboratories with experience in newborn screening and/or monitoring of patients with HT-1 across Europe participated in this study to assess variability and improve SA and nitisinone concentration measurements from DBS by liquid chromatography-tandem mass spectrometry (LC-MS/MS). Quantification of nitisinone from both DBS and plasma was performed to assess sample comparability. In addition, efforts to harmonize laboratory procedures of SA and nitisinone quantifications during 5 rounds of analysis are described.
    Results: Nitisinone levels measured from DBS and plasma strongly correlated (
    Conclusion: The study provides guidance for the determination of nitisinone and SA from DBS and the interpretation of results in the clinic. Inter-laboratory analytical harmonization was demonstrated through calibration improvements.
    Language English
    Publishing date 2020-04-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12112
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

    McHugh, David M S / Cameron, Cynthia A / Abdenur, Jose E / Abdulrahman, Mahera / Adair, Ona / Al Nuaimi, Shahira Ahmed / Åhlman, Henrik / Allen, Jennifer J / Antonozzi, Italo / Archer, Shaina / Au, Sylvia / Auray-Blais, Christiane / Baker, Mei / Bamforth, Fiona / Beckmann, Kinga / Pino, Gessi Bentz / Berberich, Stanton L / Binard, Robert / Boemer, François /
    Bonham, Jim / Breen, Nancy N / Bryant, Sandra C / Caggana, Michele / Caldwell, S Graham / Camilot, Marta / Campbell, Carlene / Carducci, Claudia / Cariappa, Rohit / Carlisle, Clover / Caruso, Ubaldo / Cassanello, Michela / Castilla, Ane Miren / Ramos, Daisy E Castiñeiras / Chakraborty, Pranesh / Chandrasekar, Ram / Ramos, Alfredo Chardon / Cheillan, David / Chien, Yin-Hsiu / Childs, Thomas A / Chrastina, Petr / Sica, Yuri Cleverthon / de Juan, Jose Angel Cocho / Colandre, Maria Elena / Espinoza, Veronica Cornejo / Corso, Gaetano / Currier, Robert / Cyr, Denis / Czuczy, Noemi / D'Apolito, Oceania / Davis, Tim / de Sain-Van der Velden, Monique G / Delgado Pecellin, Carmen / Di Gangi, Iole Maria / Di Stefano, Cristina Maria / Dotsikas, Yannis / Downing, Melanie / Downs, Stephen M / Dy, Bonifacio / Dymerski, Mark / Rueda, Inmaculada / Elvers, Bert / Eaton, Roger / Eckerd, Barbara M / El Mougy, Fatma / Eroh, Sarah / Espada, Mercedes / Evans, Catherine / Fawbush, Sandy / Fijolek, Kristel F / Fisher, Lawrence / Franzson, Leifur / Frazier, Dianne M / Garcia, Luciana R C / Bermejo, Maria Sierra García-Valdecasas / Gavrilov, Dimitar / Gerace, Rosemarie / Giordano, Giuseppe / Irazabal, Yolanda González / Greed, Lawrence C / Grier, Robert / Grycki, Elyse / Gu, Xuefan / Gulamali-Majid, Fizza / Hagar, Arthur F / Han, Lianshu / Hannon, W Harry / Haslip, Christa / Hassan, Fayza Abdelhamid / He, Miao / Hietala, Amy / Himstedt, Leslie / Hoffman, Gary L / Hoffman, William / Hoggatt, Philis / Hopkins, Patrick V / Hougaard, David M / Hughes, Kerie / Hunt, Patricia R / Hwu, Wuh-Liang / Hynes, June / Ibarra-González, Isabel / Ingham, Cindy A / Ivanova, Maria / Jacox, Ward B / John, Catharine / Johnson, John P / Jónsson, Jón J / Karg, Eszter / Kasper, David / Klopper, Brenda / Katakouzinos, Dimitris / Khneisser, Issam / Knoll, Detlef / Kobayashi, Hirinori / Koneski, Ronald / Kozich, Viktor / Kouapei, Rasoul / Kohlmueller, Dirk / Kremensky, Ivo / la Marca, Giancarlo / Lavochkin, Marcia / Lee, Soo-Youn / Lehotay, Denis C / Lemes, Aida / Lepage, Joyce / Lesko, Barbara / Lewis, Barry / Lim, Carol / Linard, Sharon / Lindner, Martin / Lloyd-Puryear, Michele A / Lorey, Fred / Loukas, Yannis L / Luedtke, Julie / Maffitt, Neil / Magee, J Fergall / Manning, Adrienne / Manos, Shawn / Marie, Sandrine / Hadachi, Sônia Marchezi / Marquardt, Gregg / Martin, Stephen J / Matern, Dietrich / Mayfield Gibson, Stephanie K / Mayne, Philip / McCallister, Tonya D / McCann, Mark / McClure, Julie / McGill, James J / McKeever, Christine D / McNeilly, Barbara / Morrissey, Mark A / Moutsatsou, Paraskevi / Mulcahy, Eleanor A / Nikoloudis, Dimitris / Norgaard-Pedersen, Bent / Oglesbee, Devin / Oltarzewski, Mariusz / Ombrone, Daniela / Ojodu, Jelili / Papakonstantinou, Vagelis / Reoyo, Sherly Pardo / Park, Hyung-Doo / Pasquali, Marzia / Pasquini, Elisabetta / Patel, Pallavi / Pass, Kenneth A / Peterson, Colleen / Pettersen, Rolf D / Pitt, James J / Poh, Sherry / Pollak, Arnold / Porter, Cory / Poston, Philip A / Price, Ricky W / Queijo, Cecilia / Quesada, Jonessy / Randell, Edward / Ranieri, Enzo / Raymond, Kimiyo / Reddic, John E / Reuben, Alejandra / Ricciardi, Charla / Rinaldo, Piero / Rivera, Jeff D / Roberts, Alicia / Rocha, Hugo / Roche, Geraldine / Greenberg, Cheryl Rochman / Mellado, José María Egea / Juan-Fita, María Jesús / Ruiz, Consuelo / Ruoppolo, Margherita / Rutledge, S Lane / Ryu, Euijung / Saban, Christine / Sahai, Inderneel / García-Blanco, Maria Isabel Salazar / Santiago-Borrero, Pedro / Schenone, Andrea / Schoos, Roland / Schweitzer, Barb / Scott, Patricia / Seashore, Margretta R / Seeterlin, Mary A / Sesser, David E / Sevier, Darrin W / Shone, Scott M / Sinclair, Graham / Skrinska, Victor A / Stanley, Eleanor L / Strovel, Erin T / Jones, April L Studinski / Sunny, Sherlykutty / Takats, Zoltan / Tanyalcin, Tijen / Teofoli, Francesca / Thompson, J Robert / Tomashitis, Kathy / Domingos, Mouseline Torquado / Torres, Jasmin / Torres, Rosario / Tortorelli, Silvia / Turi, Sandor / Turner, Kimberley / Tzanakos, Nick / Valiente, Alf G / Vallance, Hillary / Vela-Amieva, Marcela / Vilarinho, Laura / von Döbeln, Ulrika / Vincent, Marie-Francoise / Vorster, B Chris / Watson, Michael S / Webster, Dianne / Weiss, Sheila / Wilcken, Bridget / Wiley, Veronica / Williams, Sharon K / Willis, Sharon A / Woontner, Michael / Wright, Katherine / Yahyaoui, Raquel / Yamaguchi, Seiji / Yssel, Melissa / Zakowicz, Wendy M

    Genetics in medicine : official journal of the American College of Medical Genetics

    2011  Volume 13, Issue 3, Page(s) 230–254

    Abstract: Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort.: Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of ... ...

    Abstract Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort.
    Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration.
    Results: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341).
    Conclusion: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.
    MeSH term(s) Amino Acids/blood ; Carnitine/analogs & derivatives ; Carnitine/blood ; Humans ; Infant, Newborn ; International Cooperation ; Metabolic Diseases/diagnosis ; Neonatal Screening ; Reference Values ; Sensitivity and Specificity ; Software ; Tandem Mass Spectrometry
    Chemical Substances Amino Acids ; acylcarnitine ; Carnitine (S7UI8SM58A)
    Language English
    Publishing date 2011-02-08
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. ; Validation Study
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1097/GIM.0b013e31820d5e67
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top