Works matching IS 2409515X AND DT 2025 AND VI 11 AND IP 1

Results: 22
    1
    2
    3
    4

    Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait †.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 19, doi. 10.3390/ijns11010019
    By:
    • Alsharhan, Hind;
    • Ahmed, Amir A.;
    • Abdullah, Marwa;
    • Almaie, Moudhi;
    • Marafie, Makia J.;
    • Sulaiman, Ibrahim;
    • Elshafie, Reem M.;
    • Alahmad, Ahmad;
    • Alshammari, Asma;
    • Cyril, Parakkal Xavier;
    • Elkazzaz, Usama M.;
    • Ibrahim, Samia M.;
    • Elghitany, Mohamed;
    • Salloum, Ayman M.;
    • Yassen, Fahmy;
    • Alsafi, Rasha;
    • Bastaki, Laila;
    • Albash, Buthaina
    Publication type:
    Article
    5

    International Survey on Phenylketonuria Newborn Screening.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018
    By:
    • Trampuž, Domen;
    • Schielen, Peter C. J. I.;
    • Zetterström, Rolf H.;
    • Scarpa, Maurizio;
    • Feillet, François;
    • Kožich, Viktor;
    • Tangeraas, Trine;
    • Drole Torkar, Ana;
    • Mlinarič, Matej;
    • Perko, Daša;
    • Remec, Žiga Iztok;
    • Lampret, Barbka Repič;
    • Battelino, Tadej;
    • van Spronsen, Francjan J.;
    • Bonham, James R.;
    • Grošelj, Urh
    Publication type:
    Article
    6
    7
    8
    9

    Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 14, doi. 10.3390/ijns11010014
    By:
    • Cazzorla, Chiara;
    • Gragnaniello, Vincenza;
    • Gaiga, Giacomo;
    • Gueraldi, Daniela;
    • Puma, Andrea;
    • Loro, Christian;
    • Benetti, Giada;
    • Schiavo, Rossana;
    • Porcù, Elena;
    • Burlina, Alessandro P.;
    • Burlina, Alberto B.
    Publication type:
    Article
    10
    11
    12

    Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 11, doi. 10.3390/ijns11010011
    By:
    • De Felipe, Beatriz;
    • Delgado-Pecellin, Carmen;
    • Lopez-Lobato, Mercedes;
    • Olbrich, Peter;
    • Blanco-Lobo, Pilar;
    • Marquez-Fernandez, Josefina;
    • Salamanca, Carmen;
    • Mendoza, Beatriz;
    • Castro-Serrano, Rocio;
    • Duque, Cristina;
    • Moreno-Prieto, Mariana;
    • Madruga-Garrido, Marcos;
    • Lucena, Jose M.;
    • Fernandez, Raquel M.;
    • Ruiz-Camacho, Maria;
    • Varona, Alberto;
    • Neth, Olaf
    Publication type:
    Article
    13

    Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 10, doi. 10.3390/ijns11010010
    By:
    • Rodrigues, Diogo;
    • Marcão, Ana;
    • Lopes, Lurdes;
    • Ventura, Ana;
    • Faria, Teresa;
    • Ferrão, Anabela;
    • Gonçalves, Carolina;
    • Kjöllerström, Paula;
    • Castro, Ana;
    • Fraga, Sofia;
    • Almeida, Marta;
    • Maia, Tabita;
    • Gomes, João;
    • Lachado, Ana;
    • Guerra, Isabel;
    • Ferreira, Fátima;
    • Trigo, Fernanda;
    • Bento, Celeste;
    • Vilarinho, Laura
    Publication type:
    Article
    14

    Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 9, doi. 10.3390/ijns11010009
    By:
    • Drole Torkar, Ana;
    • Klinc, Ana;
    • Remec, Ziga Iztok;
    • Rankovic, Branislava;
    • Bartolj, Klara;
    • Bertok, Sara;
    • Colja, Sara;
    • Cuk, Vanja;
    • Debeljak, Marusa;
    • Kozjek, Eva;
    • Repic Lampret, Barbka;
    • Mlinaric, Matej;
    • Mohar Hajnsek, Tinka;
    • Perko, Daša;
    • Stajer, Katarina;
    • Tesovnik, Tine;
    • Trampuz, Domen;
    • Ulaga, Blanka;
    • Kovac, Jernej;
    • Battelino, Tadej
    Publication type:
    Article
    15
    16
    17

    Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 6, doi. 10.3390/ijns11010006
    By:
    • Klippel, Claire;
    • Park, Jiwoon;
    • Sandin, Sean;
    • Winstone, Tara M. L.;
    • Chen, Xue;
    • Orton, Dennis;
    • Singh, Aranjeet;
    • Hill, Jonathan D.;
    • Shahbal, Tareq K.;
    • Hamacher, Emily;
    • Officer, Brandon;
    • Thompson, John;
    • Duong, Phi;
    • Grotzer, Tim;
    • Hahn, Si Houn
    Publication type:
    Article
    18
    19
    20
    21

    Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific—2024.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 2, doi. 10.3390/ijns11010002
    By:
    • Therrell, Bradford L.;
    • Padilla, Carmencita D.;
    • Abadingo, Michelle E.;
    • Adhikari, Shree Prasad;
    • Aung, Thuza;
    • Aye, Thet Thet;
    • Dey, Sanjoy Kumer;
    • Faizi, Muhammad;
    • Ganbaatar, Erdenetuya;
    • Giang, Tran Thi Huong;
    • Hang, Hoang Thu;
    • Heng, Rathmony;
    • Kapoor, Seema;
    • Nyamdavaa, Khurelbaatar;
    • Paudel, Prajwal;
    • Phou, Kimyi;
    • Pulungan, Aman B.;
    • Sayyavong, Chittaphone;
    • Walani, Salimah R.;
    • Zafar, Tariq
    Publication type:
    Article
    22

    Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 1, doi. 10.3390/ijns11010001
    By:
    • Veldman, Abigail;
    • Sikkema-Raddatz, Birgit;
    • Derks, Terry G. J.;
    • van Karnebeek, Clara D. M.;
    • Kiewiet, M. B. Gea;
    • Mulder, Margaretha F.;
    • Nelen, Marcel R.;
    • Rubio-Gozalbo, M. Estela;
    • Sinke, Richard J.;
    • de Sain-van der Velden, Monique G.;
    • Visser, Gepke;
    • de Vries, Maaike C.;
    • Westra, Dineke;
    • Williams, Monique;
    • Wevers, Ron A.;
    • Heiner-Fokkema, M. Rebecca;
    • van Spronsen, Francjan J.
    Publication type:
    Article