Works matching IS 2409515X AND DT 2022 AND VI 8 AND IP 3

Results: 12

Developing an Online Dashboard to Visualize Performance Data—Tennessee Newborn Screening Experience.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030049

By:

Lechner, Charles;
Rumpler, Marc;
Dorley, Mary Christine;
Li, Yinmei;
Ingram, Amanda;
Fryman, Hilary

Publication type:

Article

Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030042

By:

Omari, Amel;
Reeves, Sarah L.;
Prosser, Lisa A.;
Creary, Melissa S.;
Ahmad, Ayesha;
Chua, Kao-Ping

Publication type:

Article

dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030048

By:

Peng, Gang;
Zhang, Yunxuan;
Zhao, Hongyu;
Scharfe, Curt

Publication type:

Article

Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030046

By:

Bianchimani, Chiara;
Dolce, Daniela;
Centrone, Claudia;
Campana, Silvia;
Ravenni, Novella;
Orioli, Tommaso;
Camera, Erica;
Mergni, Gianfranco;
Fevola, Cristina;
Bonomi, Paolo;
Taccetti, Giovanni;
Terlizzi, Vito

Publication type:

Article

Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030045

By:

Shih, Sophy T. F.;
Keller, Elena;
Wiley, Veronica;
Farrar, Michelle A.;
Wong, Melanie;
Chambers, Georgina M.

Publication type:

Article

Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030044

By:

Shih, Sophy T. F.;
Keller, Elena;
Wiley, Veronica;
Wong, Melanie;
Farrar, Michelle A.;
Chambers, Georgina M.

Publication type:

Article

A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030043

By:

Crossen, Kaylee;
Berry, Lisa;
Myers, Melanie F.;
Leslie, Nancy;
Goueli, Cecilia

Publication type:

Article

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030047

By:

Ruoppolo, Margherita;
Malvagia, Sabrina;
Boenzi, Sara;
Carducci, Carla;
Dionisi-Vici, Carlo;
Teofoli, Francesca;
Burlina, Alberto;
Angeloni, Antonio;
Aronica, Tommaso;
Bordugo, Andrea;
Bucci, Ines;
Camilot, Marta;
Carbone, Maria Teresa;
Cardinali, Roberta;
Carducci, Claudia;
Cassanello, Michela;
Castana, Cinzia;
Cazzorla, Chiara;
Ciatti, Renzo;
Ferrari, Simona

Publication type:

Article

The Progress and Future of US Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030041

By:

Watson, Michael S.;
Lloyd-Puryear, Michele A.;
Howell, R. Rodney

Publication type:

Article

Newborn Screening by Genomic Sequencing: Opportunities and Challenges.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030040

By:

Bick, David;
Ahmed, Arzoo;
Deen, Dasha;
Ferlini, Alessandra;
Garnier, Nicolas;
Kasperaviciute, Dalia;
Leblond, Mathilde;
Pichini, Amanda;
Rendon, Augusto;
Satija, Aditi;
Tuff-Lacey, Alice;
Scott, Richard H.

Publication type:

Article

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030039

By:

Kubaski, Francyne;
Burlina, Alberto;
Polo, Giulia;
Pereira, Danilo;
Herbst, Zackary M.;
Silva, Camilo;
Trapp, Franciele B.;
Michelin-Tirelli, Kristiane;
Lopes, Franciele F.;
Burin, Maira G.;
Brusius-Facchin, Ana Carolina;
Netto, Alice B. O.;
Faqueti, Larissa;
Iop, Gabrielle D.;
Poletto, Edina;
Giugliani, Roberto

Publication type:

Article

Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030038

By:

Sontag, Marci K.;
Miller, Joshua I.;
McKasson, Sarah;
Gaviglio, Amy;
Martiniano, Stacey L.;
West, Rhonda;
Vazquez, Marisol;
Ren, Clement L.;
Farrell, Philip M.;
McColley, Susanna A.;
Kellar-Guenther, Yvonne

Publication type:

Article