NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates
Makaleler > Tam Makale · 2014
Yazarlar: sitke aygen, ulrich duerr, peter hegele, Johannes Kunig, manfred spraul, Hartmut Schaefer, david krings, claire cannet, fang fang, Birk Schuetz, SELDA FATMA BÜLBÜL, halil ibrahim aydın, SERDAR ÜMİT SARICI, Mehmet YALAZ, rahmi örs, reşit atalan, OĞUZ TUNCER
JIMD REPORTS, VOL 16, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2014, cilt 16, ss 101-111
Özet
Approximately 1 in 400 neonates in Turkey is affected by inherited metabolic diseases. This high prevalence is at least in part due to consanguineous marriages. Standard screening in Turkey now covers only three metabolic diseases (phenylketonuria, congenital hypothyroidism, and biotinidase deficiency). Once symptoms have developed, tandem-MS can be used, although this currently covers only up to 40 metabolites. NMR potentially offers a rapid and versatile alternative.