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Showing results for ISSN matching 2409-515X

Province-Wide Stool Color Card Screening for Biliary Atresia in Lower-Saxony: Experiences with Passive Distribution Strategies and Results

JOURNAL ARTICLE published 4 November 2021 in International Journal of Neonatal Screening

Authors: Omid Madadi-Sanjani | Joachim F. Kuebler | Marie Uecker | Eva-Doreen Pfister | Ulrich Baumann | Berit Kunze-Hullmann | Jochen Blaser | Thomas Buck | Claus Petersen

https://doi.org/10.3390/ijns7040075 Actions

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

JOURNAL ARTICLE published 15 November 2022 in International Journal of Neonatal Screening

Research funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (1R01HD104814-01A1)

Authors: Kabir Jalal | Randy L. Carter | Amy Barczykowski | Shunji Tomatsu | Thomas J. Langan

https://doi.org/10.3390/ijns8040061 Actions

Consumer Satisfaction with Newborn Pulse Oximetry Screening in a Midwifery-Led Maternity Setting

JOURNAL ARTICLE published 2 December 2018 in International Journal of Neonatal Screening

Research funded by Health Research Council of New Zealand (17-391)

Authors: Elza Cloete | Thomas L. Gentles | Robert A. Lutter | Kelly Richards | Kim Ward | Frank H. Bloomfield

https://doi.org/10.3390/ijns4040038 Actions

Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools

JOURNAL ARTICLE published 9 July 2018 in International Journal of Neonatal Screening

Authors: Michael Gelb

https://doi.org/10.3390/ijns4030023 Actions

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation

JOURNAL ARTICLE published 7 July 2021 in International Journal of Neonatal Screening

Authors: Reiko Kagawa | Go Tajima | Takako Maeda | Fumiaki Sakura | Akari Nakamura-Utsunomiya | Keiichi Hara | Yutaka Nishimura | Miori Yuasa | Yosuke Shigematsu | Hiromi Tanaka | Saki Fujihara | Chiyoko Yoshii | Satoshi Okada

https://doi.org/10.3390/ijns7030039 Actions

Editorial for Special Issue “Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies”

JOURNAL ARTICLE published 20 September 2019 in International Journal of Neonatal Screening

https://doi.org/10.3390/ijns5040036 Actions

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

JOURNAL ARTICLE published 8 April 2024 in International Journal of Neonatal Screening

Research funded by NHS England/Department of Health and Social Care (CFNGS)

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

https://doi.org/10.3390/ijns10020031 Actions

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

JOURNAL ARTICLE published 7 February 2020 in International Journal of Neonatal Screening

Authors: Dawn S. Peck | Jean M. Lacey | Amy L. White | Gisele Pino | April L. Studinski | Rachel Fisher | Ayesha Ahmad | Linda Spencer | Sarah Viall | Natalie Shallow | Amy Siemon | J. Austin Hamm | Brianna K. Murray | Kelly L. Jones | Dimitar Gavrilov | Devin Oglesbee | Kimiyo Raymond | Dietrich Matern | Piero Rinaldo | Silvia Tortorelli

https://doi.org/10.3390/ijns6010010 Actions

History of Newborn Screening for Cystic Fibrosis—The Early Years

JOURNAL ARTICLE published 31 January 2020 in International Journal of Neonatal Screening

Authors: Georges Travert | Mary Heeley | Anthony Heeley

https://doi.org/10.3390/ijns6010008 Actions

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

JOURNAL ARTICLE published 18 June 2021 in International Journal of Neonatal Screening

Authors: Johannes Spenger | Esther Maier | Katharina Wechselberger | Florian Bauder | Melanie Kocher | Wolfgang Sperl | Martin Preisel | Katharina Schiergens | Vassiliki Konstantopoulou | Wulf Röschinger | Johannes Häberle | Thomas Schmitt-Mechelke | Saskia Wortmann | Ralph Fingerhut

https://doi.org/10.3390/ijns7020032 Actions

Newborn Sickle Cell and Thalassaemia Screening Programme: Automating and Enhancing the System to Evaluate the Screening Programme

JOURNAL ARTICLE published 31 August 2019 in International Journal of Neonatal Screening

Authors: Catherine Coppinger | Robyn O’Loughlin

https://doi.org/10.3390/ijns5030030 Actions

Acknowledgment to the Reviewers of International Journal of Neonatal Screening in 2022

JOURNAL ARTICLE published 18 January 2023 in International Journal of Neonatal Screening

Authors: International Journal of Neonatal Screening Editorial Office

https://doi.org/10.3390/ijns9010005 Actions

Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists

JOURNAL ARTICLE published 6 August 2021 in International Journal of Neonatal Screening

Authors: Mirjam van der Burg

https://doi.org/10.3390/ijns7030052 Actions

Potential Benefit of Selective CMV Testing after Failed Newborn Hearing Screening

JOURNAL ARTICLE published 19 June 2018 in International Journal of Neonatal Screening

Authors: Peter Kummer | Steven Marcrum

https://doi.org/10.3390/ijns4020020 Actions

Newborn Screening Long Term Follow-Up in the Medical Home

JOURNAL ARTICLE published 25 July 2019 in International Journal of Neonatal Screening

Research funded by Health Resources and Services Administration (HRSA-13-213)

Authors: Deborah Badawi | Katharine Bisordi | Marilyn J. Timmel | Scott Sorongon | Erin Strovel

https://doi.org/10.3390/ijns5030025 Actions

A Rapid and Sensitive UPLC-MS/MS-Method for the Separation and Quantification of Branched-Chain Amino Acids from Dried Blood Samples of Patients with Maple Syrup Urine Disease (MSUD)

JOURNAL ARTICLE published 2 June 2016 in International Journal of Neonatal Screening

Authors: Ralph Fingerhut | Wulf Röschinger | Markus Heck

https://doi.org/10.3390/ijns2020002 Actions

Glue for Manufacturing Heel Prick Filter Cards Does Not Interfere with the Measurement of Analytes for Newborn Screening

JOURNAL ARTICLE published 14 November 2017 in International Journal of Neonatal Screening

Authors: Rose Maase | Marelle Bouva | Peter Schielen

https://doi.org/10.3390/ijns3040030 Actions

A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age

JOURNAL ARTICLE published 14 December 2022 in International Journal of Neonatal Screening

Authors: Ulf Wike Ljungblad | Morten Lindberg | Erik A. Eklund | Ingjerd Sæves | Carlos Sagredo | Anne-Lise Bjørke-Monsen | Trine Tangeraas

https://doi.org/10.3390/ijns8040066 Actions

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

JOURNAL ARTICLE published 11 October 2023 in International Journal of Neonatal Screening

Research funded by ZonMw (50-54300-98-506)

Authors: 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

https://doi.org/10.3390/ijns9040056 Actions

Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input

JOURNAL ARTICLE published 27 September 2022 in International Journal of Neonatal Screening

Research funded by The Legacy of Angels Foundation (None)

Authors: Michael H. Farrell | Katherine E. Mooney | Anita Laxova | Philip M. Farrell

https://doi.org/10.3390/ijns8040054 Actions
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