Works matching Newborn screening

Results: 5000
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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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    Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 6, doi. 10.3390/ijns9010006
    By:
    • Lefèvre, Charles R.;
    • Labarthe, François;
    • Dufour, Diane;
    • Moreau, Caroline;
    • Faoucher, Marie;
    • Rollier, Paul;
    • Arnoux, Jean-Baptiste;
    • Tardieu, Marine;
    • Damaj, Léna;
    • Bendavid, Claude;
    • Dessein, Anne-Frédérique;
    • Acquaviva-Bourdain, Cécile;
    • Cheillan, David
    Publication type:
    Article
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    Newborn screening.

    Published in:
    Journal of Pain Management, 2021, v. 14, n. 4, p. 299
    By:
    • Kanungo, Shibani;
    • Samuel, Sharmeen;
    • Ramsay, Jessica;
    • Neelakantan, Mekala;
    • Saeedian, Jasmine
    Publication type:
    Article
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    A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

    Published in:
    Journal of Clinical Immunology, 2024, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01821-7
    By:
    • Shibata, Hirofumi;
    • Nakajima, Daisuke;
    • Konno, Ryo;
    • Hijikata, Atsushi;
    • Higashiguchi, Motoko;
    • Nihira, Hiroshi;
    • Shimodera, Saeko;
    • Miyamoto, Takayuki;
    • Nishitani-Isa, Masahiko;
    • Hiejima, Eitaro;
    • Izawa, Kazushi;
    • Takita, Junko;
    • Heike, Toshio;
    • Okamura, Ken;
    • Ohnishi, Hidenori;
    • Ishimura, Masataka;
    • Okada, Satoshi;
    • Yamashita, Motoi;
    • Morio, Tomohiro;
    • Kanegane, Hirokazu
    Publication type:
    Article
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    Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01691-z
    By:
    • Marakhonov, Andrey V.;
    • Efimova, Irina Yu.;
    • Mukhina, Anna A.;
    • Zinchenko, Rena A.;
    • Balinova, Natalya V.;
    • Rodina, Yulia;
    • Pershin, Dmitry;
    • Ryzhkova, Oxana P.;
    • Orlova, Anna A.;
    • Zabnenkova, Viktoriia V.;
    • Cherevatova, Tatiana B.;
    • Beskorovainaya, Tatiana S.;
    • Shchagina, Olga A.;
    • Polyakov, Alexander V.;
    • Markova, Zhanna G.;
    • Minzhenkova, Marina E.;
    • Shilova, Nadezhda V.;
    • Larin, Sergey S.;
    • Khadzhieva, Maryam B.;
    • Dudina, Ekaterina S.
    Publication type:
    Article
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    Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 5, p. 965, doi. 10.1007/s10875-023-01450-6
    By:
    • Speckmann, Carsten;
    • Nennstiel, Uta;
    • Hönig, Manfred;
    • Albert, Michael H.;
    • Ghosh, Sujal;
    • Schuetz, Catharina;
    • Brockow, Inken;
    • Hörster, Friederike;
    • Niehues, Tim;
    • Ehl, Stephan;
    • Wahn, Volker;
    • Borte, Stephan;
    • Lehmberg, Kai;
    • Baumann, Ulrich;
    • Beier, Rita;
    • Krüger, Renate;
    • Bakhtiar, Shahrzad;
    • Kuehl, Joern-Sven;
    • Klemann, Christian;
    • Kontny, Udo
    Publication type:
    Article
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    TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1696, doi. 10.1007/s10875-022-01335-0
    By:
    • Wakamatsu, Manabu;
    • Kojima, Daiei;
    • Muramatsu, Hideki;
    • Okuno, Yusuke;
    • Kataoka, Shinsuke;
    • Nakamura, Fumiko;
    • Sakai, Yoshimi;
    • Tsuge, Ikuya;
    • Ito, Tsuyoshi;
    • Ueda, Kazuto;
    • Saito, Akiko;
    • Morihana, Eiji;
    • Ito, Yasuhiko;
    • Ohashi, Naoki;
    • Tanaka, Makito;
    • Tanaka, Taihei;
    • Kojima, Seiji;
    • Nakajima, Yoko;
    • Ito, Tetsuya;
    • Takahashi, Yoshiyuki
    Publication type:
    Article
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    Newborn Screening for SCID in New York State: Experience from the First Two Years.

    Published in:
    Journal of Clinical Immunology, 2014, v. 34, n. 3, p. 289, doi. 10.1007/s10875-014-0006-7
    By:
    • Vogel, Beth;
    • Bonagura, Vincent;
    • Weinberg, Geoffrey;
    • Ballow, Mark;
    • Isabelle, Jason;
    • DiAntonio, Lisa;
    • Parker, April;
    • Young, Allison;
    • Cunningham-Rundles, Charlotte;
    • Fong, Chin-To;
    • Celestin, Jocelyn;
    • Lehman, Heather;
    • Rubinstein, Arye;
    • Siegel, Subhadra;
    • Weiner, Leonard;
    • Saavedra-Matiz, Carlos;
    • Kay, Denise;
    • Caggana, Michele
    Publication type:
    Article
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    Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia.

    Published in:
    Journal of Clinical Immunology, 2013, v. 33, n. 3, p. 540, doi. 10.1007/s10875-012-9846-1
    By:
    • Mallott, Jacob;
    • Kwan, Antonia;
    • Church, Joseph;
    • Gonzalez-Espinosa, Diana;
    • Lorey, Fred;
    • Tang, Ling;
    • Sunderam, Uma;
    • Rana, Sadhna;
    • Srinivasan, Rajgopal;
    • Brenner, Steven;
    • Puck, Jennifer
    Publication type:
    Article
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