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

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

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

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