Works matching IS 2409515X AND DT 2024 AND VI 10 AND IP 3

Results: 23

Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 64, doi. 10.3390/ijns10030064

By:

Unnikumaran, Yekaterina;
Lietsch, Mei;
Brower, Amy

Publication type:

Article

Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 63, doi. 10.3390/ijns10030063

By:

Greaves, Ronda F.;
Northfield, Jo-Ann;
Cross, Lauren;
Mawad, Nazha;
Nguyen, Thanh;
Tan, Maggie;
O'Connell, Michele A.;
Pitt, James

Publication type:

Article

Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 62, doi. 10.3390/ijns10030062

By:

Schnabel-Besson, Elena;
Mütze, Ulrike;
Dikow, Nicola;
Hörster, Friederike;
Morath, Marina A.;
Alex, Karla;
Brennenstuhl, Heiko;
Settegast, Sascha;
Okun, Jürgen G.;
Schaaf, Christian P.;
Winkler, Eva C.;
Kölker, Stefan

Publication type:

Article

A Qualitative Study on Engaged Families' Experiences with Long-Term Follow-Up Care in the Colorado/Wyoming Newborn Screening System.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 61, doi. 10.3390/ijns10030061

By:

Quesada, Stacey;
Barringer, Lauren;
Sontag, Marci K.;
Kellar-Guenther, Yvonne

Publication type:

Article

Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 60, doi. 10.3390/ijns10030060

By:

Moat, Stuart J.;
Bonham, James R.;
Cavanagh, Christine;
Birch, Margaret;
Griffith, Caroline;
Shakespeare, Lynette;
Le Masurier, Clare;
Manfredonia, Claire;
Hird, Beverly;
Goddard, Philippa;
Smith, Sarah;
Wainwright, Laura;
Carling, Rachel S.;
Cundick, Jennifer;
Jenkinson, Fiona;
Collingwood, Catherine;
Flynn, Nick;
Taj, Nazia;
Mirzazadeh, Mehdi;
Ramgoolam, Tejswurree

Publication type:

Article

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 59, doi. 10.3390/ijns10030059

By:

Cavan, Barbra Charina V.;
de Castro-Hamoy, Leniza G.;
Abarquez, Conchita G.;
Maceda, Ebner Bon G.;
Alcausin, Maria Melanie Liberty B.

Publication type:

Article

Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 58, doi. 10.3390/ijns10030058

By:

Zaidman, Craig M.;
Crockett, Cameron D.;
Wedge, Ethan;
Tabatabai, Grace;
Goedeker, Natalie

Publication type:

Article

Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 57, doi. 10.3390/ijns10030057

By:

Brkušanin, Miloš;
Garai, Nemanja;
Karanović, Jelena;
Šljivančanin Jakovljević, Tamara;
Dimitrijević, Aleksandra;
Jovanović, Kristina;
Mitrović, Tanja Lazić;
Miković, Željko;
Brajušković, Goran;
Nikolić, Dimitrije Mihailo;
Savić-Pavićević, Dušanka

Publication type:

Article

Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 56, doi. 10.3390/ijns10030056

By:

Cooper, Katy;
Nalbant, Gamze;
Sutton, Anthea;
Harnan, Sue;
Thokala, Praveen;
Chilcott, Jim;
McNeill, Alisdair;
Bessey, Alice

Publication type:

Article

Continuity of Operations in Newborn Screening: Lessons Learned from Three Incidents.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 55, doi. 10.3390/ijns10030055

By:

Dorley, M. Christine;
Bair, Elizabeth;
Ryland, Patricia;
Ingram, Amanda D.;
Reeves, Emily;
Levinson, Kara J.;
Adair, Ona O.;
Meredith, Jenny F.;
Crowe, Susanne

Publication type:

Article

A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 54, doi. 10.3390/ijns10030054

By:

Wong, Kristen N.;
McIntyre, Melissa;
Cook, Sabina;
Hart, Kim;
Wilson, Amelia;
Moldt, Sarah;
Rohrwasser, Andreas;
Butterfield, Russell J.

Publication type:

Article

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 53, doi. 10.3390/ijns10030053

By:

Maines, Evelina;
Franceschi, Roberto;
Rivieri, Francesca;
Piccoli, Giovanni;
Schulte, Björn;
Hoffmann, Jessica;
Bordugo, Andrea;
Rodella, Giulia;
Teofoli, Francesca;
Vincenzi, Monica;
Soffiati, Massimo;
Camilot, Marta

Publication type:

Article

Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 52, doi. 10.3390/ijns10030052

By:

Teixeira Palla Braga, Nathalia;
Vilela Antunes, Jáderson Mateus;
Colosimo, Enrico Antônio;
Alves Dias, Vera Maria;
Januário, José Nélio;
Novato Silva, Ivani

Publication type:

Article

CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 51, doi. 10.3390/ijns10030051

By:

Lee, Francis K.;
Greene, Christopher;
Mercer, Kristina;
Taylor, Jennifer;
Yazdanpanah, Golriz;
Vogt, Robert;
Lee, Rachel;
Cuthbert, Carla;
Cordovado, Suzanne

Publication type:

Article

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 50, doi. 10.3390/ijns10030050

By:

Šimić, Darija;
Šarić, Ana;
Škaričić, Ana;
Lehman, Ivan;
Bunoza, Branka;
Rako, Ivana;
Fumić, Ksenija

Publication type:

Article

Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 49, doi. 10.3390/ijns10030049

By:

Cooper, Katy;
Nalbant, Gamze;
Sutton, Anthea;
Harnan, Sue;
Thokala, Praveen;
Chilcott, Jim;
McNeill, Alisdair;
Bessey, Alice

Publication type:

Article

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 48, doi. 10.3390/ijns10030048

By:

Howell, Susan;
Davis, Shanlee M.;
Carstens, Billie;
Haag, Mary;
Ross, Judith L.;
Tartaglia, Nicole R.

Publication type:

Article

Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 47, doi. 10.3390/ijns10030047

By:

Heather, Natasha;
Greaves, Ronda F.;
Bhattacharya, Kaustuv;
Greed, Lawrence;
Pitt, James;
Siu, Carol Wai-Kwan;
de Hora, Mark;
Price, Ricky;
Ranieri, Enzo;
Wotton, Tiffany;
Webster, Dianne

Publication type:

Article

Evaluation of the Newborn Screening Pilot for Sickle Cell Disease in Suriname Using the Non-Adoption, Abandonment, Scale-Up, Spread, and Sustainability (NASSS) Framework.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 46, doi. 10.3390/ijns10030046

By:

Tang, Ming-Jan;
Roosblad, Jimmy;
Codrington, John;
Peters, Marjolein;
Toekoen, Aartie;
van Rheenen, Patrick F.;
Juliana, Amadu

Publication type:

Article

Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 45, doi. 10.3390/ijns10030045

By:

Bean, Karen;
Jones, Simon A.;
Chakrapani, Anupam;
Vijay, Suresh;
Wu, Teresa;
Church, Heather;
Chanson, Charlotte;
Olaye, Andrew;
Miller, Beckley;
Jensen, Ivar;
Pang, Francis

Publication type:

Article

One Size Does Not Fit All: A Multifaceted Approach to Educate Families about Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 44, doi. 10.3390/ijns10030044

By:

Raia, Marianna H.;
Lynch, Molly M.;
Ward, Alyson C.;
Brown, Jill A.;
Bonhomme, Natasha F.;
Hunting, Vicki L.

Publication type:

Article

Charting the Course: Towards a Comprehensive Newborn Screening Program in India.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 43, doi. 10.3390/ijns10030043

By:

Kapoor, Seema;
Gupta, Amit Kumar;
Thelma, B. K.

Publication type:

Article

The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 42, doi. 10.3390/ijns10030042

By:

Ashenden, Alex J.;
Chowdhury, Ayesha;
Anastasi, Lucy T.;
Lam, Khoa;
Rozek, Tomas;
Ranieri, Enzo;
Siu, Carol Wai-Kwan;
King, Jovanka;
Mas, Emilie;
Kassahn, Karin S.

Publication type:

Article