Works matching IS 2409515X AND DT 2023 AND VI 9 AND IP 1

Results: 15

Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 15, doi. 10.3390/ijns9010015

By:

la Marca, Giancarlo;
Carling, Rachel. S.;
Moat, Stuart. J.;
Yahyaoui, Raquel;
Ranieri, Enzo;
Bonham, James. R.;
Schielen, Peter. C. J. I.

Publication type:

Article

Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 14, doi. 10.3390/ijns9010014

By:

Belle Jarvis, Shivon;
Hadeed, Edda;
Lee, Ketty;
Hardy-Dessources, Marie-Dominique;
Knight-Madden, Jennifer M.;
Richardson, Claudine

Publication type:

Article

Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 11, doi. 10.3390/ijns9010011

By:

Dorley, M. Christine;
Dizikes, George J.;
Pickens, Charles Austin;
Cuthbert, Carla;
Basheeruddin, Khaja;
Gulamali-Majid, Fizza;
Hetterich, Paul;
Hietala, Amy;
Kelsey, Ashley;
Klug, Tracy;
Lesko, Barbara;
Mills, Michelle;
Moloney, Shawn;
Neogi, Partha;
Orsini, Joseph;
Singer, Douglas;
Petritis, Konstantinos

Publication type:

Article

Remembering the Legacy of Judi Tuerck.

Published in:

2023

By:

Morris, Amy;
Hermerath, Cheryl;
Ojodu, Jelili;
Buist, Neil

Publication type:

Obituary

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 13, doi. 10.3390/ijns9010013

By:

Dantonio, Paul;
Tavakoli, Norma P.;
Migliore, Brooke;
McCown, Elizabeth;
Lim, Timothy;
Park, Sunju;
Caggana, Michele;
Kucera, Katerina S.;
Phan, Han;
Street, Natalie;
Petritis, Konstantinos;
Vogt, Robert F.

Publication type:

Article

Implications of Genomic Newborn Screening for Infant Mortality.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 12, doi. 10.3390/ijns9010012

By:

Wojcik, Monica H.;
Gold, Nina B.

Publication type:

Article

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 10, doi. 10.3390/ijns9010010

By:

Patel, Payal;
Yeley, Jana;
Brown, Cynthia;
Wesson, Melissa;
Lesko, Barbara G.;
Slaven, James E.;
Chmiel, James F.;
Jain, Raksha;
Sanders, Don B.

Publication type:

Article

Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 9, doi. 10.3390/ijns9010009

By:

Tippabathani, Jayakrishna;
Seenappa, Venu;
Murugan, Alagupandian;
Phani, Nagaraja Mahishi;
Hampe, Mahesh H.;
Appaswamy, Giridharan;
Sadashiv Gambhir, Prakash

Publication type:

Article

Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20".

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 8, doi. 10.3390/ijns9010008

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

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 6, doi. 10.3390/ijns9010006

By:

Lefèvre, Charles R.;
Labarthe, François;
Dufour, Diane;
Moreau, Caroline;
Faoucher, Marie;
Rollier, Paul;
Arnoux, Jean-Baptiste;
Tardieu, Marine;
Damaj, Léna;
Bendavid, Claude;
Dessein, Anne-Frédérique;
Acquaviva-Bourdain, Cécile;
Cheillan, David

Publication type:

Article

Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20.

Published in:

2023

By:

Maase, Rose;
Jansen, Marleen E.;
Heijnen, Marie-Louise;
Dekkers, Eugenie

Publication type:

Letter

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 3, doi. 10.3390/ijns9010003

By:

Tangeraas, Trine;
Ljungblad, Ulf W.;
Lutvica, Elma;
Kristensen, Erle;
Rowe, Alex D.;
Bjørke-Monsen, Anne-Lise;
Rootwelt-Revheim, Terje;
Sæves, Ingjerd;
Pettersen, Rolf D.

Publication type:

Article

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

Published in:: 2023
Publication type:: Editorial

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

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 4, doi. 10.3390/ijns9010004

By:

Carmona, Suzanne Marie G.;
Abacan, Mary Ann R.;
Alcausin, Maria Melanie Liberty B.

Publication type:

Article

Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 2, doi. 10.3390/ijns9010002

By:

Maceda, Ebner Bon G.;
Abadingo, Michelle E.;
Panol, Karen Asuncion R.;
Beltran, Frederick David E.;
Valdez-Acosta, Ivy Rose C.;
Taquiqui, Grandelee D.;
Gawigawen, Sharon B.;
Macalino, Maria Victoria L.;
Aguirre-Aguinaldo, Laura Maria Soledad M.;
Flores-Declaro, Marive A.;
Ventilacion, Karen June V.;
Boligao, Ma. Rita Anna Salve R.;
Honor, Nancy G.;
Ellong, Mirasol S.;
Ocho-Ortencio, Rona D.;
Beley, Genelynne J.;
Bondoc-Eran, Maria Christina N.;
Therrell Jr., Bradford L.;
Padilla, Carmencita D.

Publication type:

Article