Expanded newborn screening by mass spectrometry: New tests, future perspectives-Reference-Cited by-同舟云学术

Expanded newborn screening by mass spectrometry: New tests, future perspectives

Published:2015-05-07 Issue:1 Volume:35 Page:71-84
ISSN:0277-7037
Container-title:Mass Spectrometry Reviews
language:en
Short-container-title:Mass Spec Rev

Author:

Ombrone Daniela¹²,Giocaliere Elisa¹,Forni Giulia¹,Malvagia Sabrina¹,la Marca Giancarlo¹²

Affiliation:

1. Newborn screening, Clinical Chemistry and Pharmacology Lab; Meyer Children's University Hospital; Viale Pieraccini 24 Florence 50139 Italy

2. Department of Neurosciences, Psychology, Drug Research and Child Health; University of Florence; Viale Pieraccini 6 Florence 50139 Italy

Publisher

Wiley

Subject

Spectroscopy,General Biochemistry, Genetics and Molecular Biology,Condensed Matter Physics,Analytical Chemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mas.21463/fullpdf

Reference140 articles.

1. Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T cell lymphopenia;Accetta;J Allergy Clin Immunol,2011

2. Gene therapy for immunodeficiency due to adenosine deaminase deficiency;Aiuti;N Engl J Med,2009

3. A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels;Al-Saud;Clin Biochem,2009

4. Correct splicing despite mutation of the invariant first nucleotide of a 5-prime splice site: A possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency;Arredondo-Vega;Am J Hum Genet,1994

5. Adenosine deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles;Arredondo-Vega;Am J Hum Genet,1998

Cited by 104 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Paving the way in implementation of SCID newborn screening in developing nations: feasibility study and strategies to move forward in Malaysia;Frontiers in Immunology;2024-06-25

2. Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots;Molecular Genetics and Metabolism Reports;2024-06

3. 206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China;Frontiers in Genetics;2024-05-09

4. How mass spectrometry revolutionized newborn screening;Journal of Mass Spectrometry and Advances in the Clinical Lab;2024-04

5. Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry;International Journal of Neonatal Screening;2024-03-29