Works matching IS 2409515X AND DT 2021 AND VI 7 AND IP 3

Results: 29

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030047

By:

Kumar, Binod;
Barton, Samantha;
Kordowska, Jolanta;
Eaton, Roger B.;
Counihan, Anne M.;
Hale, Jaime E.;
Comeau, Anne Marie

Publication type:

Article

Neonatal Screening for SCID: The French Experience.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030042

By:

Audrain, Marie;
Thomas, Caroline

Publication type:

Article

Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030060

By:

van den Akker-van Marle, M. Elske;
Blom, Maartje;
van der Burg, Mirjam;
Bredius, Robbert G. M.;
Van der Ploeg, Catharina P. B.

Publication type:

Article

Establishing a National Community of Practice for Newborn Screening Follow-Up.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030049

By:

Darby, Erin;
Thompson, John;
Johnson, Carol;
Singh, Sikha;
Ojodu, Jelili

Publication type:

Article

First Year of TREC-Based National SCID Screening in Sweden.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030059

By:

Göngrich, Christina;
Ekwall, Olov;
Sundin, Mikael;
Brodszki, Nicholas;
Fasth, Anders;
Marits, Per;
Dysting, Sam;
Jonsson, Susanne;
Barbaro, Michela;
Wedell, Anna;
von Döbeln, Ulrika;
Zetterström, Rolf H.

Publication type:

Article

The Editor's Choice for Issue 2, Volume 7.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030061

By:

Ficicioglu, Can

Publication type:

Article

The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030041

By:

Simon, Norma-Jean;
Atkins, Anne;
Miller, Brianne;
Bonhomme, Natasha;
Tarini, Beth

Publication type:

Article

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030058

By:

Nobuyuki Shimozawa;
Shigeo Takashima;
Hiroki Kawai;
Kazuo Kubota;
Hideo Sasai;
Kenji Orii;
Megumi Ogawa;
Hidenori Ohnishi

Publication type:

Article

Advances in the Diagnosis and Treatment of Krabbe Disease.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030057

By:

Wenger, David A.;
Luzi, Paola;
Rafi, Mohammad A.

Publication type:

Article

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.

Published in:: International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030056
Publication type:: Article

Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030055

By:

Mador-House, Rachel;
Zaiping Liu;
Dyack, Sarah

Publication type:

Article

Implementation of SCID Screening in Denmark.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030054

By:

Bækvad-Hansen, Marie;
Adamsen, Dea;
Bybjerg-Grauholm, Jonas;
Hougaard, David Michael

Publication type:

Article

Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030053

By:

Romanelli Tavares, Vanessa Luiza;
Monfardini, Frederico;
Vilaça Lourenço, Naila Cristina;
Maria da Rocha, Katia;
Weinmann, Karina;
Pavanello, Rita;
Zatz, Mayana

Publication type:

Article

Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030052

By:

van der Burg, Mirjam

Publication type:

Article

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030050

By:

Lund, Allan Meldgaard;
Wibrand, Flemming;
Skogstrand, Kristin;
Bækvad-Hansen, Marie;
Gregersen, Niels;
Andresen, Brage Storstein;
Hougaard, David M.;
Dunø, Morten;
Olsen, Rikke Katrine Jentoft

Publication type:

Article

Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the Determination of TSH in Dried Blood Samples on Two Different Platforms.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030051

By:

Fingerhut, Ralph

Publication type:

Article

Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030040

By:

Atkins, Anne E.;
Cogley, Michael F.;
Baker, Mei W.

Publication type:

Article

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030038

By:

Gold, Jessica I.;
Campbell, Ian M.;
Ficicioglu, Can

Publication type:

Article

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030048

By:

Asamoah, Alexander;
Sainan Wei;
Jackson, Kelly E.;
Hersh, Joseph H.;
Levy, Harvey

Publication type:

Article

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030037

By:

Brower, Amy;
Kee Chan;
Hartnett, Michael;
Taylor, Jennifer

Publication type:

Article

Newborn Screening for SCID: Experience in Spain (Catalonia).

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030046

By:

Argudo-Ramírez, Ana;
Martín-Nalda, Andrea;
González de Aledo-Castillo, Jose Manuel;
López-Galera, Rosa;
Luis Marín-Soria, Jose;
Pajares-García, Sonia;
Martínez-Gallo, Mónica;
García-Prat, Marina;
Colobran, Roger;
Riviere, Jacques G.;
Quintero, Yania;
Collado, Tatiana;
Ribes, Antonia;
García-Villoria, Judit;
Soler-Palacín, Pere

Publication type:

Article

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030045

By:

Tomokazu Kimizu;
Shinobu Ida;
Kentaro Okamoto;
Hiroyuki Awano;
Niba, Emma Tabe Eko;
Wijaya, Yogik Onky Silvana;
Shin Okazaki;
Hideki Shimomura;
Tomoko Lee;
Koji Tominaga;
Shin Nabatame;
Toshio Saito;
Takashi Hamazaki;
Norio Sakai;
Kayoko Saito;
Haruo Shintaku;
Kandai Nozu;
Yasuhiro Takeshima;
Kazumoto Iijima;
Hisahide Nishio

Publication type:

Article

Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030044

By:

Yosuke Shigematsu;
Miori Yuasa;
Nobuyuki Ishige;
Hideki Nakajima;
Go Tajima

Publication type:

Article

Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030043

By:

Cogley, Michael F.;
Wiberley-Bradford, Amy E.;
Mochal, Sean T.;
Dawe, Sandra J.;
Piro, Zachary D.;
Baker, Mei W.

Publication type:

Article

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030039

By:

Reiko Kagawa;
Go Tajima;
Takako Maeda;
Fumiaki Sakura;
Akari Nakamura-Utsunomiya;
Keiichi Hara;
Yutaka Nishimura;
Miori Yuasa;
Yosuke Shigematsu;
Hiromi Tanaka;
Saki Fujihara;
Chiyoko Yoshii;
Satoshi Okada

Publication type:

Article

Newborn Screening for Congenital Hypothyroidism in Japan.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030034

By:

Kanshi Minamitani

Publication type:

Article

Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030036

By:

Atsumi Tsuji-Hosokawa;
Kenichi Kashimada

Publication type:

Article

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030035

By:

Go Tajima;
Reiko Kagawa;
Fumiaki Sakura;
Akari Nakamura-Utsunomiya;
Keiichi Hara;
Miori Yuasa;
Yuki Hasegawa;
Hideo Sasai;
Satoshi Okada

Publication type:

Article

Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030033

By:

Hale, Kshea;
Ojodu, Jelili;
Singh, Sikha

Publication type:

Article