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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    Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1016
    By:
    • Martin‐Nalda, Andrea;
    • Cueto‐González, Anna M.;
    • Argudo‐Ramírez, Ana;
    • Marin‐Soria, Jose L.;
    • Martinez‐Gallo, Monica;
    • Colobran, Roger;
    • Plaja, Albert;
    • Castells, Neus;
    • Riviere, Jacques;
    • Tizzano, Eduardo F.;
    • Soler‐Palacin, Pere
    Publication type:
    Article
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    Newborn screening for Fabry disease in the north-west of Spain.

    Published in:
    2017
    By:
    • Colon, Cristobal;
    • Ortolano, Saida;
    • Melcon-Crespo, Cristina;
    • Alvarez, Jose;
    • Lopez-Suarez, Olalla;
    • Couce, Maria;
    • Fernández-Lorenzo, José;
    • Alvarez, Jose V;
    • Lopez-Suarez, Olalla E;
    • Couce, Maria L;
    • Fernández-Lorenzo, José R
    Publication type:
    journal article
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    Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

    Published in:
    2017
    By:
    • Alfadhel, Majid;
    • Al Othaim, Ali;
    • Al Saif, Saif;
    • Al Mutairi, Fuad;
    • Alsayed, Moeenaldeen;
    • Rahbeeni, Zuhair;
    • Alzaidan, Hamad;
    • Alowain, Mohammed;
    • Al‐Hassnan, Zuhair;
    • Saeedi, Mohamad;
    • Aljohery, Saeed;
    • Alasmari, Ali;
    • Faqeih, Eissa;
    • Alwakeel, Mansour;
    • AlMashary, Maher;
    • Almohameed, Sulaiman;
    • Alzahrani, Mohammed;
    • Migdad, Abeer;
    • Al‐Dirbashi, Osama Y;
    • Rashed, Mohamed
    Publication type:
    journal article
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    Newborn screening for sickle cell disease: an innovative pilot program to improve child survival in Dar es Salaam, Tanzania.

    Published in:
    International Health (1876-3413), 2019, v. 11, n. 6, p. 589, doi. 10.1093/inthealth/ihz028
    By:
    • Nkya, Siana;
    • Mtei, Lillian;
    • Soka, Deogratias;
    • Mdai, Vera;
    • Mwakale, Promise B;
    • Mrosso, Paul;
    • Mchoropa, Issa;
    • Rwezaula, Stella;
    • Azayo, Mary;
    • Ulenga, Nzovu;
    • Ngido, Melkiory;
    • Cox, Sharon E;
    • D'Mello, Brenda S;
    • Masanja, Honorati;
    • Kabadi, Gregory S;
    • Mbuya, Frederick;
    • Mmbando, Bruno;
    • Daniel, Yvonne;
    • Streetly, Allison;
    • Killewo, Japhet
    Publication type:
    Article
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    Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02916-x
    By:
    • Ferlini, Alessandra;
    • Gross, Edith Sky;
    • Garnier, Nicolas;
    • Berghout, Joanne;
    • Zygmunt, Aldona;
    • Singh, Deependra;
    • Huang, Kui A.;
    • Kantz, Waltraud;
    • Blankart, Carl Rudolf;
    • Gillner, Sandra;
    • Zhao, Jiawei;
    • Roettger, Richard;
    • Saier, Christina;
    • Kirschner, Jan;
    • Schenk, Joern;
    • Atkins, Leon;
    • Ryan, Nuala;
    • Zarakowska, Kaja;
    • Zschüntzsch, Jana;
    • Zuccolo, Michela
    Publication type:
    Article
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    Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 80, doi. 10.3390/ijns10040080
    By:
    • El Janahi, Sara;
    • Filali, Mounir;
    • Boudar, Zakia;
    • Akhattab, Amina;
    • El Jaoudi, Rachid;
    • Al Idrissi, Najib;
    • Dini, Nouzha;
    • Nejjari, Chakib;
    • Yahyaoui, Raquel;
    • Lloyd-Puryear, Michele A.;
    • Ghazal, Hassan
    Publication type:
    Article
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    A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 67, doi. 10.3390/ijns10040067
    By:
    • Galadanci, Aisha A.;
    • Ibrahim, Umma A.;
    • Carroll, Yvonne;
    • Jobbi, Yusuf D.;
    • Farouk, Zubaida L.;
    • Mukaddas, Aisha;
    • Hussaini, Nafiu;
    • Sani Musa, Bilya;
    • Klein, Lauren J.;
    • DeBaun, Michael R.
    Publication type:
    Article