Works matching IS 2409515X AND DT 2024 AND VI 10 AND IP 2

Results: 15

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 40, doi. 10.3390/ijns10020040

By:

Knöpfli, Stella;
Goeschl, Bernadette;
Zeyda, Maximilian;
Baghdasaryan, Anna;
Baumgartner-Kaut, Margot;
Baumgartner, Matthias R.;
Herle, Marion;
Margreitter, Julian;
Poms, Martin;
Wortmann, Saskia B.;
Konstantopoulou, Vassiliki;
Huemer, Martina

Publication type:

Article

Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 37, doi. 10.3390/ijns10020037

By:

Kellar-Guenther, Yvonne;
Barringer, Lauren;
Raboin, Katherine;
Nichols, Ginger;
Chou, Kathy Y. F.;
Nguyen, Kathy;
Burke, Amy R.;
Fawbush, Sandy;
Meyer, Joyal B.;
Dorsey, Morna;
Brower, Amy;
Chan, Kee;
Lietsch, Mei;
Taylor, Jennifer;
Caggana, Michele;
Sontag, Marci K.

Publication type:

Article

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023).

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 38, doi. 10.3390/ijns10020038

By:

Therrell, Bradford L.;
Padilla, Carmencita D.;
Borrajo, Gustavo J. C.;
Khneisser, Issam;
Schielen, Peter C. J. I.;
Knight-Madden, Jennifer;
Malherbe, Helen L.;
Kase, Marika

Publication type:

Article

Economic Rationality in Decision-Making Regarding Newborn Screening: A Case Study in Quebec.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 36, doi. 10.3390/ijns10020036

By:

Ho, Van Hoa;
Giguère, Yves;
Reinharz, Daniel

Publication type:

Article

Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 41, doi. 10.3390/ijns10020041

By:

Potter, Sarah Nelson;
Migliore, Brooke;
Carter, Javan;
Copeland, Veronica R.;
Smith, Edward C.;
Peay, Holly L.;
Kucera, Katerina S.

Publication type:

Article

ISNS Celebrates International Neonatal Screening Day 2024 with a New IJNS CiteScore, a Global Report and a WHO Resolution.

Published in:

2024

By:

Schielen, Peter C. J. I.

Publication type:

Editorial

Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 35, doi. 10.3390/ijns10020035

By:

Sosova, Iveta;
Archibald, Alyssa;
Rosolowsky, Erik W.;
Rathwell, Sarah;
Christian, Susan;
Rosolowsky, Elizabeth T.

Publication type:

Article

Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 29, doi. 10.3390/ijns10020029

By:

Al Bandari, Maria;
Nagy, Laura;
Cruz, Vivian;
Hewson, Stacy;
Hossain, Alomgir;
Inbar-Feigenberg, Michal

Publication type:

Article

An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 33, doi. 10.3390/ijns10020033

By:

Chung, Wendy K.;
Kanne, Stephen M.;
Hu, Zhanzhi

Publication type:

Article

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 32, doi. 10.3390/ijns10020032

By:

Bhattacharyya, Oindrila;
Campoamor, Nicola B.;
Armstrong, Niki;
Freed, Megan;
Schrader, Rachel;
Crossnohere, Norah L.;
Bridges, John F. P.

Publication type:

Article

International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 31, doi. 10.3390/ijns10020031

By:

Clark, Corinna C. A.;
Holder, Pru;
Boardman, Felicity K.;
Moody, Louise;
Cowlard, Jacqui;
Allen, Lorna;
Walter, Claire;
Bonham, James R.;
Chudleigh, Jane

Publication type:

Article

Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 30, doi. 10.3390/ijns10020030

By:

Solis, Leire;
Van Coillie, Samya;
Bonham, James R.;
Hauck, Fabian;
Hammarström, Lennart;
Staal, Frank J. T.;
Lim, Bruce;
Pergent, Martine;
Prévot, Johan

Publication type:

Article

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 34, doi. 10.3390/ijns10020034

By:

Lietsch, Mei;
Chan, Kee;
Taylor, Jennifer;
Lee, Bo Hoon;
Ciafaloni, Emma;
Kwon, Jennifer M.;
Waldrop, Megan A.;
Butterfield, Russell J.;
Rathore, Geetanjali;
Veerapandiyan, Aravindhan;
Kapil, Arya;
Parsons, Julie A.;
Gibbons, Melissa;
Brower, Amy

Publication type:

Article

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 28, doi. 10.3390/ijns10020028

By:

Tang, Chengfang;
Li, Lixin;
Chen, Ting;
Li, Yulin;
Zhu, Bo;
Zhang, Yinhong;
Yin, Yifan;
Liu, Xiulian;
Huang, Cidan;
Miao, Jingkun;
Zhu, Baosheng;
Wang, Xiaohua;
Zou, Hui;
Han, Lianshu;
Feng, Jizhen;
Huang, Yonglan

Publication type:

Article

Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic -Based Registries, Dashboards, and Efficient Workflows.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 27, doi. 10.3390/ijns10020027

By:

Raboin, Katherine;
Ellis, Debra;
Nichols, Ginger;
Hughes, Marcia;
Brimacombe, Michael;
Rubin, Karen

Publication type:

Article