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