Abstracts ‐ SSIEM 42st Annual Symposium, Paris, France, 6‐9 September, 2005

Abstract

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...