Title |
The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals
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Published in |
Acta Medica Austriaca, October 2010
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DOI | 10.1007/s00508-010-1457-3 |
Pubmed ID | |
Authors |
David C. Kasper, Rene Ratschmann, Thomas F. Metz, Thomas P. Mechtler, Dorothea Möslinger, Vassiliki Konstantopoulou, Chike B. Item, Arnold Pollak, Kurt R. Herkner |
Abstract |
the National Austrian Newborn Screening Program for inherited metabolic and endocrinologic disorders was introduced in 1966. The program continuously evolved by expanding the screening panel from phenylketonuria and galactosemia to congenital hypothyroidism, biotinidase deficiency, cystic fibrosis, and congenital adrenal hyperplasia. In 2002, the introduction of tandem mass spectrometry (MS/MS) substantially increased the number of detectable inborn errors of metabolism and now includes disorders of fatty acid oxidation, organic acidurias and various disorders of amino acid metabolism. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Brazil | 1 | 2% |
Unknown | 63 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 10 | 16% |
Researcher | 9 | 14% |
Student > Postgraduate | 9 | 14% |
Student > Doctoral Student | 7 | 11% |
Student > Bachelor | 6 | 9% |
Other | 12 | 19% |
Unknown | 11 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 22 | 34% |
Biochemistry, Genetics and Molecular Biology | 5 | 8% |
Agricultural and Biological Sciences | 3 | 5% |
Neuroscience | 3 | 5% |
Chemistry | 3 | 5% |
Other | 12 | 19% |
Unknown | 16 | 25% |