International journal of neonatal screening

Keyphrases

Publications

volume 10, number 2, 2024

Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International journal of neonatal screening 10 (2) (2024)
Bradford L Therrell, Carmencita D Padilla, Gustavo J C Borrajo, Issam Khneisser, Peter C J I Schielen, Jennifer Knight-Madden, Helen Louise Malherbe, Marika Kase
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023). International journal of neonatal screening 10 (2) (2024)
Peter C J I Schielen, null null
ISNS Celebrates International Neonatal Screening Day 2024 with a New IJNS CiteScore, a Global Report and a WHO Resolution. International journal of neonatal screening 10 (2) (2024)
Bradford L Therrell, Carmencita D Padilla, Gustavo J C Borrajo, Issam Khneisser, Peter C J I Schielen, Jennifer Knight-Madden, Helen Louise Malherbe, Marika Kase
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023). International journal of neonatal screening 10 (2) (2024)
Wendy K Chung, Stephen M Kanne, Zhanzhi Hu
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders. International journal of neonatal screening 10 (2) (2024)
Sarah Nelson Potter, Brooke A Migliore, Javan K Carter, Veronica R Copeland, Edward C Smith, Holly L Peay, Katerina S Kucera
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms. International journal of neonatal screening 10 (2) (2024)
Sarah Nelson Potter, Brooke A Migliore, Javan K Carter, Veronica R Copeland, Edward C Smith, Holly L Peay, Katerina S Kucera
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms. International journal of neonatal screening 10 (2) (2024)
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International journal of neonatal screening 10 (2) (2024)
Bradford L Therrell, Carmencita D Padilla, Gustavo J C Borrajo, Issam Khneisser, Peter C J I Schielen, Jennifer Knight-Madden, Helen Louise Malherbe, Marika Kase
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023). International journal of neonatal screening 10 (2) (2024)
Peter C J I Schielen, null null
ISNS Celebrates International Neonatal Screening Day 2024 with a New IJNS CiteScore, a Global Report and a WHO Resolution. International journal of neonatal screening 10 (2) (2024)

volume 10, number 3, 2024

Francis K Lee, Christopher Greene, Kristina Mercer, Jennifer Taylor, Golriz Yazdanpanah, Robert F Vogt, Rachel Lee, Carla Cuthbert, Suzanne Cordovado
CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy. International journal of neonatal screening 10 (3) (2024)
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot
Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report. International journal of neonatal screening 10 (3) (2024)
Miloš Brkušanin, Nemanja Garai, Jelena Karanović, Tamara Šljivančanin Jakovljević, Aleksandra Dimitrijević, Kristina Jovanović, Tanja Lazić Mitrović, Željko Miković, Brajuskovic Goran, Dimitrije Mihailo Nikolić, Dušanka Savić-Pavićević
Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia. International journal of neonatal screening 10 (3) (2024)
Karen Bean, Simon A Jones, Anupam Chakrapani, Suresh Vijay, Hoi Yee Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar S Jensen, Francis Pang
Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK. International journal of neonatal screening 10 (3) (2024)
Ming-Jan Tang, Jimmy Roosblad, John Codrington, Marjolein Peters, Aartie Toekoen, Patrick Ferry van Rheenen, Amadu Juliana
Evaluation of the Newborn Screening Pilot for Sickle Cell Disease in Suriname Using the Non-Adoption, Abandonment, Scale-Up, Spread, and Sustainability (NASSS) Framework. International journal of neonatal screening 10 (3) (2024)
Nathalia Teixeira Palla Braga, Jáderson Mateus Vilela Antunes, Enrico Antônio Colosimo, Vera Maria Alves Dias, José Nélio Januário, Ivani Novato Silva
Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil. International journal of neonatal screening 10 (3) (2024)
Miloš Brkušanin, Nemanja Garai, Jelena Karanović, Tamara Šljivančanin Jakovljević, Aleksandra Dimitrijević, Kristina Jovanović, Tanja Lazić Mitrović, Željko Miković, Brajuskovic Goran, Dimitrije Mihailo Nikolić, Dušanka Savić-Pavićević
Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia. International journal of neonatal screening 10 (3) (2024)
Mary Christine Dorley, Elizabeth Bair, Patricia Ryland, Amanda D Ingram, Emily Reeves, Kara J Levinson, Ona O Adair, Jenny F Meredith, Susanne R Crowe
Continuity of Operations in Newborn Screening: Lessons Learned from Three Incidents. International journal of neonatal screening 10 (3) (2024)
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, James B Chilcott, Alisdair McNeill, Alice Bessey
Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy. International journal of neonatal screening 10 (3) (2024)
Natasha L Heather, Ronda F Greaves, Kaustuv Bhattacharya, Lawrence Greed, James Pitt, Carol Wai-Kwan Siu, Mark R de Hora, Ricky Price, Enzo Ranieri, Tiffany Wotton, Dianne Webster, null null
Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand. International journal of neonatal screening 10 (3) (2024)
Alexander Ashenden, Ayesha Chowdhury, Lucy T Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka R King, Emilie Mas, Karin S Kassahn
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges. International journal of neonatal screening 10 (3) (2024)
Nathalia Teixeira Palla Braga, Jáderson Mateus Vilela Antunes, Enrico Antônio Colosimo, Vera Maria Alves Dias, José Nélio Januário, Ivani Novato Silva
Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil. International journal of neonatal screening 10 (3) (2024)
Natasha L Heather, Ronda F Greaves, Kaustuv Bhattacharya, Lawrence Greed, James Pitt, Carol Wai-Kwan Siu, Mark R de Hora, Ricky Price, Enzo Ranieri, Tiffany Wotton, Dianne Webster, null null
Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand. International journal of neonatal screening 10 (3) (2024)
Ronda F Greaves, Jo-Ann Northfield, Lauren Cross, Nazha Mawad, Thanh Nguyen, Maggie Tan, Michele A O'Connell, James Pitt
Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates. International journal of neonatal screening 10 (3) (2024)
Mary Christine Dorley, Elizabeth Bair, Patricia Ryland, Amanda D Ingram, Emily Reeves, Kara J Levinson, Ona O Adair, Jenny F Meredith, Susanne R Crowe
Continuity of Operations in Newborn Screening: Lessons Learned from Three Incidents. International journal of neonatal screening 10 (3) (2024)
Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G Okun, Christian Patrick Schaaf, Eva C Winkler, Stefan Kölker
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? International journal of neonatal screening 10 (3) (2024)
Stacey Quesada, Lauren Barringer, Marci K Sontag, Yvonne Kellar-Guenther
A Qualitative Study on Engaged Families' Experiences with Long-Term Follow-Up Care in the Colorado/Wyoming Newborn Screening System. International journal of neonatal screening 10 (3) (2024)
Craig M Zaidman, Cameron D Crockett, Ethan Wedge, Grace Tabatabai, Natalie Goedeker
Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States. International journal of neonatal screening 10 (3) (2024)
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, James B Chilcott, Alisdair McNeill, Alice Bessey
Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy. International journal of neonatal screening 10 (3) (2024)
Darija Šimić, Ana Šarić, Ana Škaričić, Ivan Lehman, Branka Bunoza, Ivana Rako, Ksenija Fumić
One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia. International journal of neonatal screening 10 (3) (2024)
Kristen N Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J Butterfield
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned. International journal of neonatal screening 10 (3) (2024)
Alexander Ashenden, Ayesha Chowdhury, Lucy T Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka R King, Emilie Mas, Karin S Kassahn
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges. International journal of neonatal screening 10 (3) (2024)
Susan Howell, Shanlee M Davis, Billie Carstens, Mary Haag, Judith L Ross, Nicole R Tartaglia
Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling. International journal of neonatal screening 10 (3) (2024)
Marianna H Raia, Molly M Lynch, Alyson C Ward, Jill A Brown, Natasha F Bonhomme, Vicki L Hunting
One Size Does Not Fit All: A Multifaceted Approach to Educate Families about Newborn Screening. International journal of neonatal screening 10 (3) (2024)
Karen Bean, Simon A Jones, Anupam Chakrapani, Suresh Vijay, Hoi Yee Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar S Jensen, Francis Pang
Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK. International journal of neonatal screening 10 (3) (2024)
Seema Kapoor, Amit Kumar Gupta, B K Thelma
Charting the Course: Towards a Comprehensive Newborn Screening Program in India. International journal of neonatal screening 10 (3) (2024)
Susan Howell, Shanlee M Davis, Billie Carstens, Mary Haag, Judith L Ross, Nicole R Tartaglia
Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling. International journal of neonatal screening 10 (3) (2024)
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, James B Chilcott, Alisdair McNeill, Alice Bessey
Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy. International journal of neonatal screening 10 (3) (2024)
Ming-Jan Tang, Jimmy Roosblad, John Codrington, Marjolein Peters, Aartie Toekoen, Patrick Ferry van Rheenen, Amadu Juliana
Evaluation of the Newborn Screening Pilot for Sickle Cell Disease in Suriname Using the Non-Adoption, Abandonment, Scale-Up, Spread, and Sustainability (NASSS) Framework. International journal of neonatal screening 10 (3) (2024)
Marianna H Raia, Molly M Lynch, Alyson C Ward, Jill A Brown, Natasha F Bonhomme, Vicki L Hunting
One Size Does Not Fit All: A Multifaceted Approach to Educate Families about Newborn Screening. International journal of neonatal screening 10 (3) (2024)
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, James B Chilcott, Alisdair McNeill, Alice Bessey
Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy. International journal of neonatal screening 10 (3) (2024)
Craig M Zaidman, Cameron D Crockett, Ethan Wedge, Grace Tabatabai, Natalie Goedeker
Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States. International journal of neonatal screening 10 (3) (2024)
Francis K Lee, Christopher Greene, Kristina Mercer, Jennifer Taylor, Golriz Yazdanpanah, Robert F Vogt, Rachel Lee, Carla Cuthbert, Suzanne Cordovado
CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy. International journal of neonatal screening 10 (3) (2024)
Stuart J Moat, James R Bonham, Christine Cavanagh, Margaret Birch, Caroline Griffith, Lynette Shakespeare, Clare Le Masurier, Claire Manfredonia, Beverly Hird, Philippa Goddard, Sarah Smith, Laura Wainwright, Rachel S Carling, Jennifer Cundick, Fiona Jenkinson, Catherine Collingwood, Nick Flynn, Nazia Taj, Mehdi Mirzazadeh, Tejswurree Ramgoolam, Liz Robinson, Amy Headley, Tessa Morgan, David Elliman, Lesley Tetlow
Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories. International journal of neonatal screening 10 (3) (2024)
Barbra Charina V Cavan, Leniza G de Castro-Hamoy, Conchita G Abarquez, Ebner Bon Gatus Maceda, Maria Melanie Liberty B Alcausin
Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1. International journal of neonatal screening 10 (3) (2024)
Yekaterina Unnikumaran, Mei Lietsch, Amy M Brower
Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey. International journal of neonatal screening 10 (3) (2024)
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot
Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report. International journal of neonatal screening 10 (3) (2024)
Seema Kapoor, Amit Kumar Gupta, B K Thelma
Charting the Course: Towards a Comprehensive Newborn Screening Program in India. International journal of neonatal screening 10 (3) (2024)
Darija Šimić, Ana Šarić, Ana Škaričić, Ivan Lehman, Branka Bunoza, Ivana Rako, Ksenija Fumić
One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia. International journal of neonatal screening 10 (3) (2024)
Kristen N Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J Butterfield
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned. International journal of neonatal screening 10 (3) (2024)