Akademska digitalna zbirka SLovenije - logo
VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Tandem madd spectrometry (MS/MS) in neonatal screening - potential, problems and prospects = Tandemska masna spektrometrija (MS/MS) v presejalnem testiranju novorojencev -možnosti, problemi in pričakovanja
    Lukacs, Z.
    Tandem mass spectrometry (MS/MS) has become a technique with great potential. Multiple analytes can now easily be determined simultaneously from one sample.In Germany, a three-year study of MS/MS ... newborn screening conducted in Bavaria concluded that the benefits of finding a variety of additional disorders warrants the additional cost of MS/MS screening. However, many open questions remain, such as, which diseases to screen for and how to organise the screening from sample to result and patient follow-up. Therefore, we included experts from four different metabolic centres in Northern Germany to decide on the initial design of our program and to continuously survey and develop it. Considering results from the Bavarian model project, from the New England Newborn Screening Program and further expert experience, we decided toinclude PKU, MSUD, tyrosinemia II, deficiencies of SCAD, MCAD, VLCAD, LCHAD,CPT I and II, CAT, MAD, HMG-CoA lyase, MCC and beta-ketothiolase, as well as propionic acidemia, methylmalonic acidemia, isovaleric acidemia and glutaric aciduria I. Citrullinemia is currently being evaluated. An expert group meets regularly to discuss clinical and technical problems. Finally, to ensure the best possible care for children found through neonatal screening weare organising a network of metabolic centres to keep track of these infantsand to advise on treatment. Because of the open questions in MS/MS screening, scientific follow-up appears mandatory.
    Vir: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 10, št. 3, 2003, str. 150-156)
    Vrsta gradiva - članek, sestavni del
    Leto - 2003
    Jezik - angleški
    COBISS.SI-ID - 17237977

Vnos na polico