Neonatal screening for citrullinaemia

Author:

Sander Johannes,Janzen Nils,Sander Stefanie,Steuerwald Ulrike,Das Anibh M.,Scholl Sabine,K.Trefz Friedrich,Koch Hans-Georg,Häberle Johannes,Korall Herbert,Marquardt Iris,Korenke Christoph

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference14 articles.

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2. Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF (1993) Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 39: 66–71

3. Häberle J, Pauli S, Linnebank M, Kleijer WJ, Bakker HD, Wanders RJA, Harms E, Koch HG (2002) Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Hum Genet 110: 327–333

4. Jacobs R (1997) Genetic screening – uses, potential abuses and ethical issues. Occup Med 47: 367–370

5. Lumley J (1991) Trials and the evaluation of screening programs. In: Wilcken B, Webster D (eds) Neonatal screening in the nineties. Proceedings of the 8th International Screening Symposium, Leura, Australia pp 11–17

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