Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.

Janzen N., Terhardt M., Sander S., Demirkol M., Gokcay G. F., Peter M., ...Daha Fazla

Clinica chimica acta; international journal of clinical chemistry, cilt.430, ss.28-32, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 430
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.cca.2013.12.020
  • Dergi Adı: Clinica chimica acta; international journal of clinical chemistry
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.28-32
  • Anahtar Kelimeler: Newborn screening of urea cycle defects, OTC deficiency in newborns, Orotic acid, UREA CYCLE DISORDERS, LIQUID-CHROMATOGRAPHY, RAPID-DETERMINATION, PLASMA, DEFECTS, URINE, CITRULLINE, DIAGNOSIS, CHILDREN
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: Orotic acid (OA) is the key parameter in the detection of ornithine transcarbamylase deficiency (OTC-D). Inclusion of OA into newborn screening compatibility with existing analytical procedures is necessary.