Results of mass neonatal screening in Lithuania L Cimbalistiene, M Smirnova, D Zamkauskiene, J Kasnauskiene, V Kucinskas 5 10-P Service of information on inborn errors of metabolism (SIEM): results of the ¢rst 3 years of a pioneering service in Brazil AC Puga, S Brustolin, C Moura de Souza, T Tubino, L Refosco, R Pires, R Giugliani 5 11-P Cord blood screening for metabolic disease J Till, A Patterson, D Parke, G Fleming, MH Henderson, GTN Besley, JH Walter 6 12-P Plasma acylcarnitine pro¢ling: diagnostic pitfalls are not so rare, even in acute crisis C Acquaviva-Bourdain, S Boyer, D Cheillan, M Piraud, C Vianey-Saban 6 13-P Identi¢cation with 1H-NMR spectroscopy of unknown bands in a thin layer chromatogram U Engelke, R Liebrand Van Sambeek, E Morava, R Wevers 7 14-P Retrospective evaluation for neonatal metabolic screening by GC/MS and MS/MS K Aoki, I Yoshida, T Inokuchi, K Tashiro, M Inaba, A Fumimori, K Matsumoto, M Tananka 7 15-P Analysis of homocysteine and methylmalonic acid in blood spots by tandem mass spectrometry as a second tier newborn screening test for homocystinuria and methylmalonic acidemias Cuthbert CD, Magera MJ, Hahn S, Tortorelli S, Rinaldo P, Matern D 8 16-P Newborn screening for medium chain acyl-CoA dehydrogenase de¢ciency (MCAD) in 8 J. Inherit. Metab. Dis. 28 (2005) Suppl. 1 # SSIEM and Springer. Printed in the Netherlands i 17-P Newborn screening for medium chain acyl CoA dehydrogenase de¢ciency (MCADD) at one week of age: octanoyl carnitine distributions from a multicentre study using electrospray tandem mass spectrometry of underivatised blood spot samples P Phillips, RN Dalton, G Besley, JR Bonham, Y Foo, A Green, M Henderson, J Oerton, C Dezateux on behalf of the Laboratory Scienti¢c Working Group of the UK Collaborative Study of Newborn Screening for MCADD 9 18-P Predictive value, clinical status and genotype of medium chain acyl CoA dehydrogenase de¢ciency (MCADD) ascertained by screening at one week of age using electrospray tandem mass spectrometry of underivatised blood spots: ¢ndings from a UK multicentre J Oerton, M Downing, BS Andresen, M Champion, M Cleary, A Chakrapani, M Sharrard, JH Walter, P Phillips, C Dezateux on behalf of the Laboratory Scienti¢c Working Group of the UK Collaborative Study of Newborn Screening for MCADD 9 28-P Newborn screening for lysososmal storage disorders: evaluation of protein pro¢ling PJ Meikle, CJ Dean, D Grasby, MR Bockmann, AM Whittle, DL Lang, M Fuller, DA Brooks, JJ Hopwood 14 29-P Multiplex direct assay of lysosomal enzymes in dried blood spots using tandem mass spectrometry: application to newborn screening MH Gelb, D Wang, R Desikan, Y Li, F Turecek, CR Scott 15 2. Phenylketonurias and Pterin Disorders 30-P Evaluation of quality of life in adolescent and adult patients su¡ering from phenylketonuria with the questionnaire`Pro¢le of Quality of Life in the Chronically ill' (PLC) M Schwarz, E Simon, J Roos, N Dragano, M Geraedts, J Siegrist, G Kamp, U Wendel 15 ii J. Inherit. Metab. Dis. 28 (2005) Suppl. 1 31-P From`ought' to`is' in phenyl...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.