You seem to have javascript disabled. Please note that many of the page functionalities won't work as expected without javascript enabled.

Search for Articles:

Title / Keyword

Author / Affiliation / Email

Journal

Article Type

Advanced Search

Section

Special Issue

Volume

Issue

Number

Page

Logical OperatorOperator

Search Text

Search Type

Submit to IJNS Review for IJNS

Journal Menu

Journal Browser

► Journal Browser

Most Cited & Viewed

Most Cited & Viewed Papers

Most Cited Papers
Most Viewed Papers
Most Downloaded Papers

Citations	Article
49	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
43	Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis by Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
26	Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories by Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang and Dietrich Matern Show full author list Hide full author list
25	Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm by Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham and Peter. C. J. I. Schielen
23	Newborn Screening for Fabry Disease: Current Status of Knowledge by Vincenza Gragnaniello, Alessandro P. Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla and Alberto B. Burlina
21	Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation by Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
19	Newborn Screening Is on a Collision Course with Public Health Ethics by Robert J. Currier
19	Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina and Alberto B. Burlina
16	Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018 by Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam and Scott D. Grosse
15	Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor by Payal Patel, Jana Yeley, Cynthia Brown, Melissa Wesson, Barbara G. Lesko, James E. Slaven, James F. Chmiel, Raksha Jain and Don B. Sanders

Citations	Article
49	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
21	Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation by Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
19	Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina and Alberto B. Burlina
13	Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
12	A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone by 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 and Charlotte M. A. Lubout
11	Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
10	Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents by Lieke M. van den Heuvel, Sylvia M. van der Pal, Rendelien K. Verschoof-Puite, Jasmijn E. Klapwijk, Ellen Elsinghorst, Eugènie Dekkers, Catharina P. B. van der Ploeg and Lidewij Henneman
10	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
9	A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism by Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto and Nidia Alejandra Guillén-Zaragoza
9	NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders by Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe and Amy Brower

Citations	Article
10	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
6	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
3	Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide by Allysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, The ISNS Representatives, Francjan J. van Spronsen and M. Rebecca Heiner-Fokkema
3	Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific—2024 by Bradford L. Therrell, Carmencita D. Padilla, Michelle E. Abadingo, Shree Prasad Adhikari, Thuza Aung, Thet Thet Aye, Sanjoy Kumer Dey, Muhammad Faizi, Erdenetuya Ganbaatar, Tran Thi Huong Giang, Hoang Thu Hang, Rathmony Heng, Seema Kapoor, Khurelbaatar Nyamdavaa, Prajwal Paudel, Kimyi Phou, Aman B. Pulungan, Chittaphone Sayyavong, Salimah R. Walani and Tariq Zafar
3	The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands by Rosalie C. Martens, Anita Boelen, Michèle H. van der Kemp, Annet M. Bosch, Eveline M. Berghout, Gert Weijman, Nitash Zwaveling-Soonawala, Rendelien K. Verschoof-Puite, Robert de Jonge, Sabine E. Hannema, Judith E. Bosmans and Annemieke C. Heijboer
3	Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events by José Manuel González de Aledo-Castillo, Ana Argudo-Ramírez, David Beneitez-Pastor, Anna Collado-Gimbert, Francisco Almazán Castro, Sílvia Roig-Bosch, Anna Andrés-Masó, Anna Ruiz-Llobet, Georgina Pedrals-Portabella, David Medina-Santamaria, Gemma Nadal-Rey, Marina Espigares-Salvia, Maria Teresa Coll-Sibina, Marcelina Algar-Serrano, Montserrat Torrent-Español, Pilar Leoz-Allegretti, Anabel Rodríguez-Pebé, Marta García-Bernal, Elisabet Solà-Segura, Amparo García-Gallego, Blanca Prats-Viedma, Rosa María López-Galera, Abraham J. Paredes-Fuentes, Sonia Pajares García, Giovanna Delgado-López, Adoración Blanco-Álvarez, Bárbara Tazón-Vega, Cristina Díaz de Heredia, María del Mar Mañú-Pereira, José Luis Marín-Soria, Judit García-Villoria, Pablo Velasco-Puyó and on behalf of the Sickle Cell Disease Newborn Screening Group of Catalonia Show full author list Hide full author list
2	Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening by Céline Renoux, Estelle Roland, Séverine Ruet, Sarah Zouaghi, Marie Michel, Philippe Joly, Cécile Feray, Fanny Zhao, Déborah Gavanier, Pascal Gaucherand, Fanny Roumieu, Giovanna Cannas, Salima Merazga, Philippe Connes, Gilles Renom, Jérôme Massardier and David Cheillan
2	Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community by Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell, Gema García-García and José M. Millán
2	Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population by Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga, Marta Almeida, Tabita Maia, João Gomes, Ana Lachado, Isabel Guerra, Fátima Ferreira, Fernanda Trigo, Celeste Bento and Laura Vilarinho
2	*Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen.* 2023, 9, 66 by Marelle J. Bouva, Rose E. Maase and Ruurd M. van Elburg**

Citations	Article
6	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
2	Expanded Newborn Screening in Italy: The First Report of Lombardy Region by Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, Michela Perrone Donnorso, Elisa Pratiffi, Andrea Meta, Stephana Carelli, Alessandro Amorosi, Sabrina Paci, Graziella Cefalo, Francesca Furlan, Francesca Menni, Serena Gasperini, Viola Crescitelli, Giuseppe Banderali, Gianvincenzo Zuccotti, Luisella Alberti and Cristina Cereda Show full author list Hide full author list
1	Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
1	The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand by Khunton Wichajarn, Nopporn Sawatjui, Prinya Prasongdee, Amrin Panklin, Kanda Sornkayasit, Natchita Chungkanchana, Supharada Tessiri, Preawwalee Wintachai, Sumalai Dechyotin, Chalanda Pasomboon, Jilawaporn Ratanapontee, Sureerat Thanakitsuwan and Aree Rattanathongkom
1	India: The Last and Best Frontier for Cystic Fibrosis Newborn Screening with Perspectives on Special Challenges by Philip M. Farrell, Grace R. Paul and Sneha D. Varkki
1	Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone by Marelle J. Bouva, Allysa M. Kuypers, Evelien A. Kemper, Rose E. Maase, Annet M. Bosch, Francjan J. van Spronsen, Annemieke C. Heijboer, M. Rebecca Heiner-Fokkema, Sandra G. Heil and Anita Boelen
1	Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program by Lacey Vermette, Jon Washburn and Tracy Klug

Citations	Article
186	Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda and Peter C.J.I. Schielen Show full author list Hide full author list
146	Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment by Baba P. D. Inusa, Lewis L. Hsu, Neeraj Kohli, Anissa Patel, Kilali Ominu-Evbota, Kofi A. Anie and Wale Atoyebi
103	*Newborn Screening for CF across the Globe—Where Is It Worthwhile?* by Virginie Scotet, Hector Gutierrez and Philip M. Farrell
82	Influence of Hematocrit and Total-Spot Volume on Performance Characteristics of Dried Blood Spots for Newborn Screening by Elizabeth M. Hall, Sharon R. Flores and Víctor R. De Jesús
82	Newborn Screening for X-Linked Adrenoleukodystrophy by Ann B. Moser, Richard O. Jones, Walter C. Hubbard, Silvia Tortorelli, Joseph J. Orsini, Michele Caggana, Beth H. Vogel and Gerald V. Raymond
74	Thalassemias: An Overview by Michael Angastiniotis and Stephan Lobitz
62	Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs by Peter C. J. I. Schielen, Evelien A. Kemper and Michael H. Gelb
62	Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders by Stuart J. Moat, Roanna S. George and Rachel S. Carling
57	Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy by Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati and Alessandro P. Burlina
56	Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools by Michael H. Gelb

More Articles...

Views	Article
22411	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
9141	Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic by Patrick Jose D. Padilla and Eileen M. Manalo
8321	2023 APHL/ISNS Newborn Screening Symposium by Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
8263	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
7905	Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories by Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang and Dietrich Matern Show full author list Hide full author list
7788	Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm by Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham and Peter. C. J. I. Schielen
6961	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
6178	Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway by Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves and Rolf D. Pettersen
6131	Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care by Ebner Bon G. Maceda, Michelle E. Abadingo, Karen Asuncion R. Panol, Frederick David E. Beltran, Ivy Rose C. Valdez-Acosta, Grandelee D. Taquiqui, Sharon B. Gawigawen, Maria Victoria L. Macalino, Laura Maria Soledad M. Aguirre-Aguinaldo, Marive A. Flores-Declaro, Karen June V. Ventilacion, Ma. Rita Anna Salve R. Boligao, Nancy G. Honor, Mirasol S. Ellong, Rona D. Ocho-Ortencio, Genelynne J. Beley, Maria Christina N. Bondoc-Eran, Bradford L. Therrell, Jr. and Carmencita D. Padilla
5503	Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis by Audrey Tluczek, Anne L. Ersig and Shinhyo Lee

Views	Article
22411	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
8321	2023 APHL/ISNS Newborn Screening Symposium by Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
8263	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
6961	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
4604	Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
4485	Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation by Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
3865	Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey by Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak and Cheuk Wing Fung Show full author list Hide full author list
3808	Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements by Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Patricia L. Hall, Joanne Kurtzberg and Joseph J. Orsini
3740	Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK by Karen Bean, Simon A. Jones, Anupam Chakrapani, Suresh Vijay, Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar Jensen and Francis Pang
3697	Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry by Chengfang Tang, Lixin Li, Ting Chen, Yulin Li, Bo Zhu, Yinhong Zhang, Yifan Yin, Xiulian Liu, Cidan Huang, Jingkun Miao, Baosheng Zhu, Xiaohua Wang, Hui Zou, Lianshu Han, Jizhen Feng and Yonglan Huang

Views	Article
8263	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
6961	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
3615	Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific—2024 by Bradford L. Therrell, Carmencita D. Padilla, Michelle E. Abadingo, Shree Prasad Adhikari, Thuza Aung, Thet Thet Aye, Sanjoy Kumer Dey, Muhammad Faizi, Erdenetuya Ganbaatar, Tran Thi Huong Giang, Hoang Thu Hang, Rathmony Heng, Seema Kapoor, Khurelbaatar Nyamdavaa, Prajwal Paudel, Kimyi Phou, Aman B. Pulungan, Chittaphone Sayyavong, Salimah R. Walani and Tariq Zafar
3244	Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco by Sara El Janahi, Mounir Filali, Zakia Boudar, Amina Akhattab, Rachid El Jaoudi, Najib Al Idrissi, Nouzha Dini, Chakib Nejjari, Raquel Yahyaoui, Michele A. Lloyd-Puryear and Hassan Ghazal
3166	A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria by Aisha A. Galadanci, Umma A. Ibrahim, Yvonne Carroll, Yusuf D. Jobbi, Zubaida L. Farouk, Aisha Mukaddas, Nafiu Hussaini, Bilya Sani Musa, Lauren J. Klein and Michael R. DeBaun
3138	International Survey on Phenylketonuria Newborn Screening by Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, ISNS Study Group on PKU, Francjan J. van Spronsen, James R. Bonham and Urh Grošelj
3073	Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events by José Manuel González de Aledo-Castillo, Ana Argudo-Ramírez, David Beneitez-Pastor, Anna Collado-Gimbert, Francisco Almazán Castro, Sílvia Roig-Bosch, Anna Andrés-Masó, Anna Ruiz-Llobet, Georgina Pedrals-Portabella, David Medina-Santamaria, Gemma Nadal-Rey, Marina Espigares-Salvia, Maria Teresa Coll-Sibina, Marcelina Algar-Serrano, Montserrat Torrent-Español, Pilar Leoz-Allegretti, Anabel Rodríguez-Pebé, Marta García-Bernal, Elisabet Solà-Segura, Amparo García-Gallego, Blanca Prats-Viedma, Rosa María López-Galera, Abraham J. Paredes-Fuentes, Sonia Pajares García, Giovanna Delgado-López, Adoración Blanco-Álvarez, Bárbara Tazón-Vega, Cristina Díaz de Heredia, María del Mar Mañú-Pereira, José Luis Marín-Soria, Judit García-Villoria, Pablo Velasco-Puyó and on behalf of the Sickle Cell Disease Newborn Screening Group of Catalonia Show full author list Hide full author list
3032	A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II by Olulade Ayodele, Daniel Fertek, Obaro Evuarherhe, Csaba Siffel, Jennifer Audi, Karen S. Yee and Barbara K. Burton
2809	Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia by Abdullah S. Alshehri, Abdul A. Peer-Zada, Abeer A. Algadhi, Abdulwahed Aldehaimi, Mohammed A. Saleh, Aziza M. Mushiba, Eissa A. Faqeih and Ali M. AlAsmari
2688	Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program by Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini and Giancarlo la Marca Show full author list Hide full author list

Views	Article
8263	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
2688	Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program by Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini and Giancarlo la Marca Show full author list Hide full author list
2454	Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
1750	ISNS General Guidelines for Neonatal Bloodspot Screening 2025 by Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan, Layachi Chabraoui, Ghassan Abdoh, Juan Cabello, Roberto Giugliani, Dimitris Platis, Jan Østrup, R. Rodney Howell, Peter C. J. I. Schielen and James R. Bonham
1748	Expanded Newborn Screening in Italy: The First Report of Lombardy Region by Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, Michela Perrone Donnorso, Elisa Pratiffi, Andrea Meta, Stephana Carelli, Alessandro Amorosi, Sabrina Paci, Graziella Cefalo, Francesca Furlan, Francesca Menni, Serena Gasperini, Viola Crescitelli, Giuseppe Banderali, Gianvincenzo Zuccotti, Luisella Alberti and Cristina Cereda Show full author list Hide full author list
1511	The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand by Khunton Wichajarn, Nopporn Sawatjui, Prinya Prasongdee, Amrin Panklin, Kanda Sornkayasit, Natchita Chungkanchana, Supharada Tessiri, Preawwalee Wintachai, Sumalai Dechyotin, Chalanda Pasomboon, Jilawaporn Ratanapontee, Sureerat Thanakitsuwan and Aree Rattanathongkom
1351	Qatar’s National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes by Tala Jamaleddin, Karen El-Akouri, Sumaya Abiib, Rola Mitri, Mamatha Ramaswamy, Sara Musa, Rehab Ali, Noora Shahbeck, Hilal Al Rifai, Ghassan Abdoh, Tawfeg Ben-Omran, Osama Y. Al-Dirbashi and Mashael Al-Shafai
1203	Evaluation of the Florida Newborn Screening Program Education Campaign by Mirine Richey, Cynthia B. Wilson, Minna Jia and Travis Galbraith
1180	India: The Last and Best Frontier for Cystic Fibrosis Newborn Screening with Perspectives on Special Challenges by Philip M. Farrell, Grace R. Paul and Sneha D. Varkki
1164	Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape by Marina Okamura, Emma Minchin, Carolyn Mazariego, Jolyn Hersch, Natalie Taylor and Ilona Juraskova

Views	Article
60995	Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment by Baba P. D. Inusa, Lewis L. Hsu, Neeraj Kohli, Anissa Patel, Kilali Ominu-Evbota, Kofi A. Anie and Wale Atoyebi
22411	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
21415	Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods—Isoelectric Focusing, HPLC, and Capillary Electrophoresis by Claudia Frömmel
20312	Point-of-Care Testing for G6PD Deficiency: Opportunities for Screening by Athena Anderle, Germana Bancone, Gonzalo J. Domingo, Emily Gerth-Guyette, Sampa Pal and Ari W. Satyagraha
14081	Newborn and Infant Hearing Screening Facing Globally Growing Numbers of People Suffering from Disabling Hearing Loss by Katrin Neumann, Shelly Chadha, George Tavartkiladze, Xingkuan Bu and Karl R. White
13708	Newborn Screening by Genomic Sequencing: Opportunities and Challenges by David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey and Richard H. Scott
13260	Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy by Patrice K. Held, Ian M. Bird and Natasha L. Heather
13231	Aspects of Newborn Screening in Isovaleric Acidemia by Andrea Schlune, Anselma Riederer, Ertan Mayatepek and Regina Ensenauer
13028	Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management by Morna Dorsey and Jennifer Puck
13013	Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda and Peter C.J.I. Schielen Show full author list Hide full author list

More Articles...

Downloads	Article
3120	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
2084	Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories by Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang and Dietrich Matern Show full author list Hide full author list
2041	Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm by Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham and Peter. C. J. I. Schielen
1669	Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis by Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
1488	Newborn Screening Is on a Collision Course with Public Health Ethics by Robert J. Currier
1404	Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
1298	Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors by Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards and Bradford L. Therrell Show full author list Hide full author list
1284	Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot by Michael J. Hartnett, Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, Michele Caggana, Wendy K. Chung, Niki Armstrong and Amy M. Brower
1236	Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation by Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
1222	Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018 by Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam and Scott D. Grosse

Downloads	Article
3120	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
1404	Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
1236	Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation by Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
1207	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
1192	Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
1122	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
1109	Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry by Chengfang Tang, Lixin Li, Ting Chen, Yulin Li, Bo Zhu, Yinhong Zhang, Yifan Yin, Xiulian Liu, Cidan Huang, Jingkun Miao, Baosheng Zhu, Xiaohua Wang, Hui Zou, Lianshu Han, Jizhen Feng and Yonglan Huang
1099	Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
1065	An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders by Wendy K. Chung, Stephen M. Kanne and Zhanzhi Hu
1054	Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina and Alberto B. Burlina

Downloads	Article
1404	Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
1207	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
1122	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
850	Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events by José Manuel González de Aledo-Castillo, Ana Argudo-Ramírez, David Beneitez-Pastor, Anna Collado-Gimbert, Francisco Almazán Castro, Sílvia Roig-Bosch, Anna Andrés-Masó, Anna Ruiz-Llobet, Georgina Pedrals-Portabella, David Medina-Santamaria, Gemma Nadal-Rey, Marina Espigares-Salvia, Maria Teresa Coll-Sibina, Marcelina Algar-Serrano, Montserrat Torrent-Español, Pilar Leoz-Allegretti, Anabel Rodríguez-Pebé, Marta García-Bernal, Elisabet Solà-Segura, Amparo García-Gallego, Blanca Prats-Viedma, Rosa María López-Galera, Abraham J. Paredes-Fuentes, Sonia Pajares García, Giovanna Delgado-López, Adoración Blanco-Álvarez, Bárbara Tazón-Vega, Cristina Díaz de Heredia, María del Mar Mañú-Pereira, José Luis Marín-Soria, Judit García-Villoria, Pablo Velasco-Puyó and on behalf of the Sickle Cell Disease Newborn Screening Group of Catalonia Show full author list Hide full author list
790	A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II by Olulade Ayodele, Daniel Fertek, Obaro Evuarherhe, Csaba Siffel, Jennifer Audi, Karen S. Yee and Barbara K. Burton
776	Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates by Ronda F. Greaves, Jo-Ann Northfield, Lauren Cross, Nazha Mawad, Thanh Nguyen, Maggie Tan, Michele A. O’Connell and James Pitt
763	Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco by Sara El Janahi, Mounir Filali, Zakia Boudar, Amina Akhattab, Rachid El Jaoudi, Najib Al Idrissi, Nouzha Dini, Chakib Nejjari, Raquel Yahyaoui, Michele A. Lloyd-Puryear and Hassan Ghazal
669	A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria by Aisha A. Galadanci, Umma A. Ibrahim, Yvonne Carroll, Yusuf D. Jobbi, Zubaida L. Farouk, Aisha Mukaddas, Nafiu Hussaini, Bilya Sani Musa, Lauren J. Klein and Michael R. DeBaun
649	Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability by Abigail Veldman, Birgit Sikkema-Raddatz, Terry G. J. Derks, Clara D. M. van Karnebeek, M. B. Gea Kiewiet, Margaretha F. Mulder, Marcel R. Nelen, M. Estela Rubio-Gozalbo, Richard J. Sinke, Monique G. de Sain-van der Velden, Gepke Visser, Maaike C. de Vries, Dineke Westra, Monique Williams, Ron A. Wevers, M. Rebecca Heiner-Fokkema and Francjan J. van Spronsen
644	Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences by Cecilie S. Videbæk, Sabine W. Grønborg, Allan M. Lund and Mette L. Olesen

Downloads	Article
1404	Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
1122	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
452	ISNS General Guidelines for Neonatal Bloodspot Screening 2025 by Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan, Layachi Chabraoui, Ghassan Abdoh, Juan Cabello, Roberto Giugliani, Dimitris Platis, Jan Østrup, R. Rodney Howell, Peter C. J. I. Schielen and James R. Bonham
419	Expanded Newborn Screening in Italy: The First Report of Lombardy Region by Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, Michela Perrone Donnorso, Elisa Pratiffi, Andrea Meta, Stephana Carelli, Alessandro Amorosi, Sabrina Paci, Graziella Cefalo, Francesca Furlan, Francesca Menni, Serena Gasperini, Viola Crescitelli, Giuseppe Banderali, Gianvincenzo Zuccotti, Luisella Alberti and Cristina Cereda Show full author list Hide full author list
378	Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China by Xudong Wang, Xingxiu Lu, Faming Zheng, Kun Lin, Minjuan Liao, Yi Dong, Tiantian Chen, Ying He, Mei Lu, Jing Chen, Yanfang Li and Yulin Zhou
310	An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening by Samantha A. Sandelowsky, Alison McEwen, Jacqui Russell, Kirsten Boggs, Rosie Junek, Carolyn Ellaway, Arthavan Selvanathan, Michelle A. Farrar and Kaustuv Bhattacharya
306	Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone by Marelle J. Bouva, Allysa M. Kuypers, Evelien A. Kemper, Rose E. Maase, Annet M. Bosch, Francjan J. van Spronsen, Annemieke C. Heijboer, M. Rebecca Heiner-Fokkema, Sandra G. Heil and Anita Boelen
301	Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program by Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini and Giancarlo la Marca Show full author list Hide full author list
293	The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand by Khunton Wichajarn, Nopporn Sawatjui, Prinya Prasongdee, Amrin Panklin, Kanda Sornkayasit, Natchita Chungkanchana, Supharada Tessiri, Preawwalee Wintachai, Sumalai Dechyotin, Chalanda Pasomboon, Jilawaporn Ratanapontee, Sureerat Thanakitsuwan and Aree Rattanathongkom
292	Evaluation of the Florida Newborn Screening Program Education Campaign by Mirine Richey, Cynthia B. Wilson, Minna Jia and Travis Galbraith

Downloads	Article
38655	Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment by Baba P. D. Inusa, Lewis L. Hsu, Neeraj Kohli, Anissa Patel, Kilali Ominu-Evbota, Kofi A. Anie and Wale Atoyebi
15862	Thalassemias: An Overview by Michael Angastiniotis and Stephan Lobitz
7063	Reliability of Neonatal Screening Results by Maria Knapkova, Kate Hall and Gerard Loeber
6902	Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement by Carmencita D. Padilla, Bradford L. Therrell, Karen Asuncion R. Panol, Riza Concordia N. Suarez, Ma. Elouisa L. Reyes, Charity M. Jomento, Ebner Bon G. Maceda, Jovy Ann C. Lising, Frederick David E. Beltran and Lita L. Orbillo
6865	ISNS 9th International Symposium, The Hague, The Netherlands, September 11–14, 2016 by Gerard Loeber
6672	Universal Implementation of Newborn Screening in India by Thomas Mookken
6054	Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda and Peter C.J.I. Schielen Show full author list Hide full author list
5611	Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods—Isoelectric Focusing, HPLC, and Capillary Electrophoresis by Claudia Frömmel
5610	Newborn Screening for Sickle Cell Disease in Europe by Yvonne Daniel, Jacques Elion, Bichr Allaf, Catherine Badens, Marelle J. Bouva, Ian Brincat, Elena Cela, Cathy Coppinger, Mariane de Montalembert, Béatrice Gulbis, Joan Henthorn, Olivier Ketelslegers, Corrina McMahon, Allison Streetly, Raffaella Colombatti and Stephan Lobitz
5362	Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay by Mary T. Bausch-Jurken, James W. Verbsky and John M. Routes

Back to TopTop