Works matching IS 2409515X AND DT 2022 AND VI 8 AND IP 1

Results: 22

The Editor's Choice for Issue 4, Volume 7.

Published in:

2022

By:

Millington, David S.

Publication type:

Editorial

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 20, doi. 10.3390/ijns8010020

By:

Jones, Simon A.;
Cheillan, David;
Chakrapani, Anupam;
Church, Heather J.;
Heales, Simon;
Wu, Teresa H. Y.;
Morton, Georgina;
Roberts, Patricia;
Sluys, Erica F.;
Burlina, Alberto

Publication type:

Article

Delivering Positive Newborn Screening Results: Cost Analysis of Existing Practice versus Innovative, Co-Designed Strategies from the ReSPoND Study.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 19, doi. 10.3390/ijns8010019

By:

Fusco, Francesco;
Chudleigh, Jane;
Holder, Pru;
Bonham, James R.;
Southern, Kevin W.;
Simpson, Alan;
Moody, Louise;
Olander, Ellinor K.;
Chinnery, Holly;
Morris, Stephen

Publication type:

Article

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 22, doi. 10.3390/ijns8010022

By:

P. Fishler, Kristen;
Euteneuer, Joshua C.;
Brunelli, Luca

Publication type:

Article

Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 18, doi. 10.3390/ijns8010018

By:

Kachwala, Isha;
Regelmann, Molly O.

Publication type:

Article

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 17, doi. 10.3390/ijns8010017

By:

Veldman, Abigail;
Kiewiet, Mensiena B. G.;
Heiner-Fokkema, Margaretha Rebecca;
Nelen, Marcel R.;
Sinke, Richard J.;
Sikkema-Raddatz, Birgit;
Voorhoeve, Els;
Westra, Dineke;
Dollé, Martijn E. T.;
Schielen, Peter C. J. I.;
van Spronsen, Francjan J.

Publication type:

Article

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 16, doi. 10.3390/ijns8010016

By:

Moser, Ann B.;
Seeger, Elisa;
Raymond, Gerald V.

Publication type:

Article

New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 15, doi. 10.3390/ijns8010015

By:

Gailite, Linda;
Sterna, Olga;
Konika, Maija;
Isakovs, Aleksejs;
Isakova, Jekaterina;
Micule, Ieva;
Setlere, Signe;
Diriks, Mikus;
Auzenbaha, Madara

Publication type:

Article

Analytical Validation of Familial Hypercholesterolemia Biomarkers in Dried Blood Spots.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 14, doi. 10.3390/ijns8010014

By:

Held, Patrice K.;
Campbell, Kristin;
Wiberley-Bradford, Amy E.;
Lasarev, Michael;
Horner, Vanessa;
Peterson, Amy

Publication type:

Article

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 13, doi. 10.3390/ijns8010013

By:

Held, Patrice K.;
Singh, Emily;
Scott Schwoerer, Jessica

Publication type:

Article

Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 12, doi. 10.3390/ijns8010012

By:

Migliore, Brooke A.;
Zhou, Linran;
Duparc, Martin;
Robles, Veronica R.;
Rehder, Catherine W.;
Peay, Holly L.;
Kucera, Katerina S.

Publication type:

Article

Genomics and Newborn Screening: Perspectives of Public Health Programs.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 11, doi. 10.3390/ijns8010011

By:

Goldenberg, Aaron J.;
Ponsaran, Roselle;
Gaviglio, Amy;
Simancek, Dalton;
Tarini, Beth A.

Publication type:

Article

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2021.

Published in:: 2022
Publication type:: Editorial

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 9, doi. 10.3390/ijns8010009

By:

Herbst, Zackary M.;
Urdaneta, Leslie;
Klein, Terri;
Burton, Barbara K.;
Basheeruddin, Khaja;
Liao, Hsuan-Chieh;
Fuller, Maria;
Gelb, Michael H.

Publication type:

Article

Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 8, doi. 10.3390/ijns8010008

By:

Padilla, Carmencita D.;
Therrell Jr., Bradford L.;
Alcausin, Maria Melanie Liberty B.;
Chiong, Mary Anne D.;
Abacan, Mary Ann R.;
Reyes, Ma. Elouisa L.;
Jomento, Charity M.;
Dizon-Escoreal, Maria Truda T.;
Canlas, Margarita Aziza E.;
Abadingo, Michelle E.;
Posecion, J. Edgar Winston C.;
Abarquez, Conchita G.;
Andal, Alma P.;
Elizaga, Anna Lea G.;
Halili-Mendoza, Bernadette C.;
Otayza, Maria Paz Virginia K.;
Millington, David S.

Publication type:

Article

Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 7, doi. 10.3390/ijns8010007

By:

Simon, Dylan;
Broadbridge, Elizabeth;
Baker, Mei;
Gaviglio, Amy;
Gruber, Dorota;
Piper, Kimberly Noble;
Tavakoli, Norma P.;
Sullivan, Jamie;
Kennedy, Annie

Publication type:

Article

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 6, doi. 10.3390/ijns8010006

By:

Burton, Barbara K.;
Hickey, Rachel;
Hitchins, Lauren;
Shively, Vera;
Ehrhardt, Joan;
Ashbaugh, Laura;
Peng, Yin;
Basheeruddin, Khaja

Publication type:

Article

International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 5, doi. 10.3390/ijns8010005

By:

Chudleigh, Jane;
Barben, Jürg;
Ren, Clement L.;
Southern, Kevin W.

Publication type:

Article

Study Design for an Evaluation of Newborn Screening for SCID in the UK.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 4, doi. 10.3390/ijns8010004

By:

Elliman, David

Publication type:

Article

Newborn Screening in Japan—2021.

Published in:

2022

By:

Tajima, Toshihiro

Publication type:

Editorial

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7 , 32.

Published in:

2022

By:

Spenger, Johannes;
Maier, Esther M.;
Wechselberger, Katharina;
Bauder, Florian;
Kocher, Melanie;
Sperl, Wolfgang;
Preisel, Martin;
Schiergens, Katharina A.;
Konstantopoulou, Vassiliki;
Röschinger, Wulf;
Häberle, Johannes;
Schmitt-Mechelke, Thomas;
Wortmann, Saskia B.;
Fingerhut, Ralph

Publication type:

Correction Notice

Flow Cytometry Confirmation Post Newborn Screening for SCID in England.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 1, doi. 10.3390/ijns8010001

By:

Gilmour, Kimberly C.

Publication type:

Article