Works matching IS 2409515X AND DT 2023 AND VI 9 AND IP 4

Results: 16

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 66, doi. 10.3390/ijns9040066
By:
- Dijkstra, Allysa M.;
- Evers-van Vliet, Kimber;
- Heiner-Fokkema, M. Rebecca;
- Bodewes, Frank A. J. A.;
- Bos, Dennis K.;
- Zsiros, József;
- van Aerde, Koen J.;
- Koop, Klaas;
- van Spronsen, Francjan J.;
- Lubout, Charlotte M. A.
Publication type:
Article
Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 68, doi. 10.3390/ijns9040068
By:
- Gaviglio, Amy;
- Lasarev, Michael;
- Sheller, Ruthanne;
- Singh, Sikha;
- Baker, Mei
Publication type:
Article
Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 67, doi. 10.3390/ijns9040067
By:
- Hogner, Silje;
- Lundman, Emma;
- Strand, Janne;
- Ytre-Arne, Mari Eknes;
- Tangeraas, Trine;
- Stray-Pedersen, Asbjørg
Publication type:
Article
Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 65, doi. 10.3390/ijns9040065
By:
- Munck, Anne;
- Southern, Kevin W.;
- Murphy, Jared;
- de Winter-de Groot, Karin M.;
- Gartner, Silvia;
- Karadag, Bülent;
- Kashirskaya, Nataliya;
- Linnane, Barry;
- Proesmans, Marijke;
- Sands, Dorota;
- Sommerburg, Olaf;
- Castellani, Carlo;
- Barben, Jürg
Publication type:
Article
Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 64, doi. 10.3390/ijns9040064
By:
- Prinzi, Julia;
- Pasquali, Marzia;
- Hobert, Judith A.;
- Palmquist, Rachel;
- Wong, Kristen N.;
- Francis, Stephanie;
- De Biase, Irene
Publication type:
Article
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 63, doi. 10.3390/ijns9040063
By:
- Chan, Kee;
- Hu, Zhanzhi;
- Bush, Lynn W.;
- Cope, Heidi;
- Holm, Ingrid A.;
- Kingsmore, Stephen F.;
- Wilhelm, Kevin;
- Scharfe, Curt;
- Brower, Amy
Publication type:
Article
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 62, doi. 10.3390/ijns9040062
By:
- Tajima, Go;
- Hara, Keiichi;
- Tsumura, Miyuki;
- Kagawa, Reiko;
- Sakura, Fumiaki;
- Sasai, Hideo;
- Yuasa, Miori;
- Shigematsu, Yosuke;
- Okada, Satoshi
Publication type:
Article
Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 61, doi. 10.3390/ijns9040061
By:
- Thangavelu, Kruthika;
- Martakis, Kyriakos;
- Feldmann, Silke;
- Roth, Bernhard;
- Herkenrath, Peter;
- Lang-Roth, Ruth
Publication type:
Article
Multivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 60, doi. 10.3390/ijns9040060
By:
- Kouřil, Štěpán;
- de Sousa, Julie;
- Fačevicová, Kamila;
- Gardlo, Alžběta;
- Muehlmann, Christoph;
- Nordhausen, Klaus;
- Friedecký, David;
- Adam, Tomáš
Publication type:
Article
A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 59, doi. 10.3390/ijns9040059
By:
- Ibarra-González, Isabel;
- Fernández-Lainez, Cynthia;
- Vela-Amieva, Marcela;
- Guillén-López, Sara;
- Belmont-Martínez, Leticia;
- López-Mejía, Lizbeth;
- Carrillo-Nieto, Rosa Itzel;
- Guillén-Zaragoza, Nidia Alejandra
Publication type:
Article
Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 58, doi. 10.3390/ijns9040058
By:
- Greaves, Ronda F.;
- Kumar, Monish;
- Mawad, Nazha;
- Francescon, Alberto;
- Le, Chris;
- O'Connell, Michele;
- Chi, James;
- Pitt, James
Publication type:
Article
Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 57, doi. 10.3390/ijns9040057
By:
- Iskrov, Georgi;
- Angelova, Vyara;
- Bochev, Boyan;
- Valchinova, Vaska;
- Gencheva, Teodora;
- Dzhuleva, Desislava;
- Dichev, Julian;
- Nedkova, Tanya;
- Palkova, Mariya;
- Tyutyukova, Anelia;
- Hristova, Maria;
- Hristova-Atanasova, Eleonora;
- Stefanov, Rumen
Publication type:
Article
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 56, doi. 10.3390/ijns9040056
By:
- Veldman, Abigail;
- Kiewiet, M. B. Gea;
- Westra, Dineke;
- Bosch, Annet M.;
- Brands, Marion M. G.;
- de Coo, René I. F. M.;
- Derks, Terry G. J.;
- Fuchs, Sabine A.;
- van den Hout, Johanna. M. P.;
- Huidekoper, Hidde H.;
- Kluijtmans, Leo A. J.;
- Koop, Klaas;
- Lubout, Charlotte M. A.;
- Mulder, Margaretha F.;
- Panis, Bianca;
- Rubio-Gozalbo, M. Estela;
- de Sain-van der Velden, Monique G.;
- Schaefers, Jaqueline;
- Schreuder, Andrea B.;
- Visser, Gepke
Publication type:
Article
A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 55, doi. 10.3390/ijns9040055
By:
- Sánchez-Villalobos, María;
- Campos Baños, Eulalia;
- Juan Fita, María Jesús;
- Egea Mellado, José María;
- Gonzalez Gallego, Inmaculada;
- Beltrán Videla, Asunción;
- Berenguer Piqueras, Mercedes;
- Bermúdez Cortés, Mar;
- Moraleda Jiménez, José María;
- Guillen Navarro, Encarna;
- Salido Fierrez, Eduardo;
- Pérez-Oliva, Ana B.
Publication type:
Article
2023 APHL/ISNS Newborn Screening Symposium.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 54, doi. 10.3390/ijns9040054
By:
- Olney, Richard S.;
- Bonham, James R.;
- Schielen, Peter C. J. I.;
- Slavin, Dara;
- Ojodu, Jelili
Publication type:
Article
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 53, doi. 10.3390/ijns9040053
By:
- Crawford, Sarah;
- Sablon, Elizabeth;
- Ali, Nadia;
- Rosen, Ami R.;
- Hall, Patricia L.;
- Neira Fresneda, Juanita
Publication type:
Article