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Showing results for ISSN matching 2409-515X

25th Annual Meeting of the German Society of Newborn Screening

JOURNAL ARTICLE published 4 June 2018 in International Journal of Neonatal Screening

Authors: Vassiliki Konstantopoulou | Maximilian Zeyda

https://doi.org/10.3390/ijns4020017 Actions

The Risk from Anti-Thyroid Hormone Antibody Interference in Neonatal Congenital Hypothyroidism Screening

JOURNAL ARTICLE published 2 March 2017 in International Journal of Neonatal Screening

Authors: Ian Brincat | Gerald Buhagiar

https://doi.org/10.3390/ijns3010004 Actions

An Important Factor—Impact

JOURNAL ARTICLE published 28 September 2017 in International Journal of Neonatal Screening

Authors: Ralph Fingerhut

https://doi.org/10.3390/ijns3040026 Actions

IJNS Turns Seven—High Impact for Neonatal Screening

JOURNAL ARTICLE published 15 March 2021 in International Journal of Neonatal Screening

Authors: Ralph Fingerhut | Peter C. J. I. Schielen

https://doi.org/10.3390/ijns7010016 Actions

The Editor’s Choice for Issue 2, Volume 7

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

Authors: Can Ficicioglu

https://doi.org/10.3390/ijns7030061 Actions

Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing

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

Authors: Suzanne Marie G. Carmona | Mary Ann R. Abacan | Maria Melanie Liberty B. Alcausin

https://doi.org/10.3390/ijns9010004 Actions

The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping Review

JOURNAL ARTICLE published 23 November 2020 in International Journal of Neonatal Screening

Authors: Pasquale Cacciatore | Laurenske A. Visser | Nasuh Buyukkaramikli | Catharina P. B. van der Ploeg | M. Elske van den Akker-van Marle

https://doi.org/10.3390/ijns6040094 Actions

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

JOURNAL ARTICLE published 25 August 2023 in International Journal of Neonatal Screening

Research funded by The Ministry of Science and Higher Education of the Russian Federation (N 075-15-2021-1061,RF 193021X0029)

Authors: Galina V. Baydakova | Polina G. Tsygankova | Natalia L. Pechatnikova | Olga A. Bazhanova | Yana D. Nazarenko | Ekaterina Y. Zakharova

https://doi.org/10.3390/ijns9030048 Actions

Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay

JOURNAL ARTICLE published 18 June 2017 in International Journal of Neonatal Screening

Authors: Mary Bausch-Jurken | James Verbsky | John Routes

https://doi.org/10.3390/ijns3020014 Actions

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

JOURNAL ARTICLE published 5 April 2024 in International Journal of Neonatal Screening

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

https://doi.org/10.3390/ijns10020030 Actions

Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID) and Other Severe T-Cell Lymphopenias

JOURNAL ARTICLE published 16 December 2015 in International Journal of Neonatal Screening

Research funded by Gebert Rüf Stiftung (GRS-046/10)

Authors: Stephan Borte | Janine Reichenbach

https://doi.org/10.3390/ijns1030089 Actions

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

JOURNAL ARTICLE published 16 April 2024 in International Journal of Neonatal Screening

Research funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD109879)

Authors: Wendy K. Chung | Stephen M. Kanne | Zhanzhi Hu

https://doi.org/10.3390/ijns10020033 Actions

Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots

JOURNAL ARTICLE published 10 December 2021 in International Journal of Neonatal Screening

Research funded by Lundbeck Foundation (na) | Danish National Research Foundation (Niels Bohr Professorship)

Authors: Sanne Grundvad Boelt | Lars Melgaard | Marta Jadwiga Thorbek | Nadia Sara Jensen MacSween | John J. McGrath | Arieh S. Cohen

https://doi.org/10.3390/ijns7040082 Actions

Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals

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

Authors: Georgi Iskrov | Vyara Angelova | Boyan Bochev | Vaska Valchinova | Teodora Gencheva | Desislava Dzhuleva | Julian Dichev | Tanya Nedkova | Mariya Palkova | Anelia Tyutyukova | Maria Hristova | Eleonora Hristova-Atanasova | Rumen Stefanov

https://doi.org/10.3390/ijns9040057 Actions

Family Perceptions of Newborn Cytomegalovirus Screening: A Qualitative Study

JOURNAL ARTICLE published 19 November 2021 in International Journal of Neonatal Screening

Research funded by Centers for Disease Control and Prevention (FOA IP 10-006)

Authors: Michael J. Cannon | Denise M. Levis | Holly McBride | Danie Watson | Carol Rheaume | Mary Ann Kirkconnell Hall | Tatiana M. Lanzieri | Gail Demmler-Harrison

https://doi.org/10.3390/ijns7040080 Actions

Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

JOURNAL ARTICLE published 21 June 2017 in International Journal of Neonatal Screening

Authors: Morna Dorsey | Jennifer Puck

https://doi.org/10.3390/ijns3020015 Actions

Newborn Screening for Fabry Disease: Current Status of Knowledge

JOURNAL ARTICLE published 5 June 2023 in International Journal of Neonatal Screening

Authors: Vincenza Gragnaniello | Alessandro P. Burlina | Anna Commone | Daniela Gueraldi | Andrea Puma | Elena Porcù | Maria Stornaiuolo | Chiara Cazzorla | Alberto B. Burlina

https://doi.org/10.3390/ijns9020031 Actions

Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT Versus IRT/PAP/IRT

JOURNAL ARTICLE published 3 September 2019 in International Journal of Neonatal Screening

https://doi.org/10.3390/ijns5030032 Actions

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

JOURNAL ARTICLE published 2 November 2020 in International Journal of Neonatal Screening

Authors: Vincenza Gragnaniello | Daniela Gueraldi | Laura Rubert | Francesca Manzoni | Chiara Cazzorla | Antonella Giuliani | Giulia Polo | Leonardo Salviati | Alberto Burlina

https://doi.org/10.3390/ijns6040085 Actions

Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders

JOURNAL ARTICLE published 28 May 2015 in International Journal of Neonatal Screening

Research funded by Swiss National Science Foundation (310030_153196)

Authors: Véronique Rüfenacht | Johannes Häberle

https://doi.org/10.3390/ijns1010027 Actions
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