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

Results: 16

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

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

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

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

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

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

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

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

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

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

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

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

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 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

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