Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry
Tarih
2004Yazar
Karaaslan, I
Demirkol, M
Baykal, T
Demir, F
Laleli, Y
Gokcay, Gülden Fatma
Üst veri
Tüm öğe kaydını gösterÖzet
Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated 'leucine' level in newborn screening by tandem mass spectrometry.
Bağlantı
http://hdl.handle.net/20.500.12627/138330https://doi.org/10.1023/b:boli.0000045839.08631.9d
Koleksiyonlar
- Makale [92796]