Works matching IS 2409515X AND DT 2024 AND VI 10 AND IP 1

Results: 26
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    Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 24, doi. 10.3390/ijns10010024
    By:
    • Carling, Rachel S.;
    • Hedgethorne, Katy;
    • Chakrapani, Anupam;
    • Hall, Patricia L.;
    • Flynn, Nick;
    • Greenfield, Toby;
    • Moat, Stuart J.;
    • Ssali, Joshua;
    • Shakespeare, Lynette;
    • Taj, Nazia;
    • Wu, Teresa H. Y.;
    • Anderson, Mark;
    • Ghosh, Arunabha;
    • Lemonde, Hugh;
    • Pierre, Germaine;
    • Sharrard, Mark;
    • Sreekantam, Sreevidya;
    • Bonham, James R.
    Publication type:
    Article
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    Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 23, doi. 10.3390/ijns10010023
    By:
    • Belaramani, Kiran Moti;
    • Chan, Toby Chun Hei;
    • Hau, Edgar Wai Lok;
    • Yeung, Matthew Chun Wing;
    • Kwok, Anne Mei Kwun;
    • Lo, Ivan Fai Man;
    • Law, Terry Hiu Fung;
    • Wu, Helen;
    • Wong, Sheila Suet Na;
    • Lam, Shirley Wai;
    • Ha, Gladys Ha Yin;
    • Lau, Toby Pui Yee;
    • Wong, Tsz Ki;
    • Or, Venus Wai Ching;
    • Wong, Rosanna Ming Sum;
    • Ming, Wong Lap;
    • Chow, Jasmine Chi Kwan;
    • Yau, Eric Kin Cheong;
    • Fu, Antony;
    • Chong, Josephine Shuk Ching
    Publication type:
    Article
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    Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 20, doi. 10.3390/ijns10010020
    By:
    • Kiewiet, Gea;
    • Westra, Dineke;
    • de Boer, Eddy N.;
    • van Berkel, Emma;
    • Hofste, Tom G. J.;
    • van Zweeden, Martine;
    • Derks, Ronny C.;
    • Leijsten, Nico F. A.;
    • Ruiterkamp-Versteeg, Martina H. A.;
    • Charbon, Bart;
    • Johansson, Lennart;
    • Bos-Kruizinga, Janneke;
    • Veenstra, Inge J.;
    • de Sain-van der Velden, Monique G. M.;
    • Voorhoeve, Els;
    • Heiner-Fokkema, M. Rebecca;
    • van Spronsen, Francjan;
    • Sikkema-Raddatz, Birgit;
    • Nelen, Marcel
    Publication type:
    Article
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    Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 19, doi. 10.3390/ijns10010019
    By:
    • Chan, Toby Chun Hei;
    • Mak, Chloe Miu;
    • Yeung, Matthew Chun Wing;
    • Law, Eric Chun-Yiu;
    • Cheung, Jana;
    • Wong, Tsz Ki;
    • Cheng, Vincent Wing-Sang;
    • Lee, Jacky Kwan Ho;
    • Wong, Jimmy Chi Lap;
    • Fung, Cheuk Wing;
    • Belaramani, Kiran Moti;
    • Kwok, Anne Mei Kwun;
    • Tsang, Kwok Yeung
    Publication type:
    Article
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    Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg †.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 9, doi. 10.3390/ijns10010009
    By:
    • Kiselev, Anton;
    • Maretina, Marianna;
    • Shtykalova, Sofia;
    • Al-Hilal, Haya;
    • Maslyanyuk, Natalia;
    • Plokhih, Mariya;
    • Serebryakova, Elena;
    • Frolova, Marina;
    • Shved, Natalia;
    • Krylova, Nadezhda;
    • Il'ina, Arina;
    • Freund, Svetlana;
    • Osinovskaya, Natalia;
    • Sultanov, Iskender;
    • Egorova, Anna;
    • Lobenskaya, Anastasia;
    • Koroteev, Alexander;
    • Sosnina, Irina;
    • Gorelik, Yulia;
    • Bespalova, Olesya
    Publication type:
    Article
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    Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 5, doi. 10.3390/ijns10010005
    By:
    • Maier, Pia;
    • Jeyaweerasinkam, Sumathy;
    • Eberhard, Janina;
    • Soueidan, Lina;
    • Hämmerling, Susanne;
    • Kohlmüller, Dirk;
    • Feyh, Patrik;
    • Gramer, Gwendolyn;
    • Garbade, Sven F.;
    • Hoffmann, Georg F.;
    • Okun, Jürgen G.;
    • Sommerburg, Olaf
    Publication type:
    Article
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    Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002
    By:
    • Cantley, Nathan W. P.;
    • Barski, Robert;
    • Kemp, Helena;
    • Hogg, Sarah L.;
    • Wu, Hoi Yee Teresa;
    • Bowron, Ann;
    • Collingwood, Catherine;
    • Cundick, Jennifer;
    • Hart, Claire;
    • Shakespeare, Lynette;
    • Preece, Mary Anne;
    • Aitkenhead, Helen;
    • Smith, Sarah;
    • Carling, Rachel S.;
    • Moat, Stuart J.
    Publication type:
    Article
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