Literature DB >> 29750285

Updates in Newborn Screening.

Farrah Rajabi.   

Abstract

Newborn screening in the United States is an important public health measure to provide early detection for specified disorders when early treatment is both possible and beneficial. As technology improves, newborn screening can be offered for many more conditions. In the past 10 years, screening has expanded to include severe combined immunodeficiency, congenital heart disease, lysosomal storage disease, and X-linked adrenoleukodystrophy. This article reviews the current state of newborn screening with updates on recent developments. [Pediatr Ann. 2018;47(5):e187-e190.]. Copyright 2018, SLACK Incorporated.

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Mesh:

Year:  2018        PMID: 29750285     DOI: 10.3928/19382359-20180426-01

Source DB:  PubMed          Journal:  Pediatr Ann        ISSN: 0090-4481            Impact factor:   1.132


  4 in total

1.  A Simple Flow Injection Analysis-Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions.

Authors:  Takanari Hattori; Yoshitomo Notsu; Misa Tanaka; Miki Matsui; Tetsuo Iida; Jun Watanabe; Yoshimitsu Osawa; Seiji Yamaguchi; Shozo Yano; Takeshi Taketani; Hironori Kobayashi
Journal:  Children (Basel)       Date:  2022-05-10

2.  Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Authors:  Xinwen Huang; Dingwen Wu; Lin Zhu; Wenjun Wang; Rulai Yang; Jianbin Yang; Qunyan He; Bingquan Zhu; Ying You; Rui Xiao; Zhengyan Zhao
Journal:  Orphanet J Rare Dis       Date:  2022-02-21       Impact factor: 4.123

3.  Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

Authors:  Maria Giżewska; Katarzyna Durda; Theresa Winter; Iwona Ostrowska; Mariusz Ołtarzewski; Jeannette Klein; Oliver Blankenstein; Hanna Romanowska; Elżbieta Krzywińska-Zdeb; Michał Filip Patalan; Elżbieta Bartkowiak; Natalia Szczerba; Stefan Seiberling; Bożena Birkenfeld; Matthias Nauck; Horst von Bernuth; Christian Meisel; Ewa Anna Bernatowska; Mieczysław Walczak; Małgorzata Pac
Journal:  Front Immunol       Date:  2020-10-16       Impact factor: 7.561

Review 4.  Combined immunodeficiencies.

Authors:  Carolina Sanchez Aranda; Rafaela Rola Guimarães; Mariana de Gouveia-Pereira Pimentel
Journal:  J Pediatr (Rio J)       Date:  2020-12-17       Impact factor: 2.990

  4 in total

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