SUBJECTS : Neonatal Screening | Target Diseases | Early Diagnosis | Genetic Screening | Newborn Screenin
LATEST MANUSCRIPTS IN International Journal of Neonatal Screening
- María Sánchez-Villalobos, Eulalia Campos Baños, María Jesús Juan Fita, José María Egea Mellado, Inmaculada Gonzalez Gallego, Asunción Beltrán Videla, Mercedes Berenguer Piqueras, Mar Bermúdez Cortés, José María Moraleda Jiménez, Encarna Guillen Navarro, Eduardo Salido Fierrez, Ana B Pérez-Oliva. A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain). International journal of neonatal screening. 2023, 9 (4):
Cited : 1Read More - Amy Gaviglio, Michael Lasarev, Ruthanne Sheller, Sikha Singh, Mei Baker. Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population. International journal of neonatal screening. 2023, 9 (4): Cited : 2Read More
- Sarah Crawford, Elizabeth Sablon, Nadia Ali, Ami R Rosen, Patricia L Hall, Juanita Neira Fresneda. Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives. International journal of neonatal screening. 2023, 9 (4): Cited : 0Read More
- Richard S Olney, James R Bonham, Peter C J I Schielen, Dara Slavin, Jelili Ojodu. 2023 APHL/ISNS Newborn Screening Symposium. International journal of neonatal screening. 2023, 9 (4): Cited : 2Read More
- Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, René I F M de Coo, Terry G J Derks, Sabine A Fuchs, Johanna M P van den Hout, Hidde H Huidekoper, Leo A J Kluijtmans, Klaas Koop, Charlotte M A Lubout, Margaretha F Mulder, Bianca Panis, M Estela Rubio-Gozalbo, Monique G de Sain-van der Velden, Jaqueline Schaefers, Andrea B Schreuder, Gepke Visser, Ron A Wevers, Frits A Wijburg, M Rebecca Heiner-Fokkema, Francjan J van Spronsen. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening. International journal of neonatal screening. 2023, 9 (4): Cited : 2Read More
- Georgi Iskrov, Vyara Angelova, Boyan Bochev, Vaska Valchinova, Teodora Gencheva, Desislava Dzhuleva, Julian Dichev, Tanya Nedkova, Mariya Palkova, Anelia Tyutyukova, Maria Hristova, Eleonora Hristova-Atanasova, Rumen Stefanov. Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals. International journal of neonatal screening. 2023, 9 (4): Cited : 1Read More
- Ronda F Greaves, Monish Kumar, Nazha Mawad, Alberto Francescon, Chris Le, Michele O'Connell, James Chi, James Pitt. Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation. International journal of neonatal screening. 2023, 9 (4): Cited : 6Read More
- Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Nidia Alejandra Guillén-Zaragoza. A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism. International journal of neonatal screening. 2023, 9 (4): Cited : 2Read More
- Kruthika Thangavelu, Kyriakos Martakis, Silke Feldmann, Bernhard Roth, Peter Herkenrath, Ruth Lang-Roth. Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany. International journal of neonatal screening. 2023, 9 (4): Cited : 0Read More
- Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen. Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS. International journal of neonatal screening. 2023, 9 (4): Cited : 1Read More
- Allysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, Frank A J A Bodewes, Dennis K Bos, József Zsiros, Koen J van Aerde, Klaas Koop, Francjan J van Spronsen, Charlotte M A Lubout. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. International journal of neonatal screening. 2023, 9 (4): Cited : 2Read More
- Anne Munck, Kevin W Southern, Jared Murphy, Karin M de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben, . Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition. International journal of neonatal screening. 2023, 9 (4): Cited : 2Read More
- Julia Prinzi, Marzia Pasquali, Judith A Hobert, Rachel Palmquist, Kristen N Wong, Stephanie Francis, Irene De Biase. Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective. International journal of neonatal screening. 2023, 9 (4): Cited : 1Read More
- Kee Chan, Zhanzhi Hu, Lynn W Bush, Heidi Cope, Ingrid A Holm, Stephen F Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower. NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. International journal of neonatal screening. 2023, 9 (4): Cited : 2Read More
- Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada. Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity. International journal of neonatal screening. 2023, 9 (4): Cited : 1Read More
