Ausgabe 4/2007
Inhalt (33 Artikel)
Expanded newborn screening in Europe 2007
O. A. Bodamer, G. F. Hoffmann, M. Lindner
Scene from the USA: The illogic of mandating screening without also providing for treatment
Neil R. M. Buist, Kathleen Huntington
Newborn screening in Latin America at the beginning of the 21st century
G. J. C. Borrajo
Newborn screening: Experiences in the Middle East and North Africa
A. A. Saadallah, M. S. Rashed
Newborn screening in the Asia Pacific region
Carmencita D. Padilla, Bradford L. Therrell
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report
L. S. Han, J. Ye, W. J. Qiu, X. L. Gao, Y. Wang, X. F. Gu
Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules
C. Auray-Blais, D. Cyr, R. Drouin
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg
M. Lindner, G. Abdoh, J. Fang-Hoffmann, N. Shabeck, M. Al Sayrafi, M. Al Janahi, S. Ho, M. O. Abdelrahman, T. Ben-Omran, A. Bener, A. Schulze, H. Al Rifai, G. Al Thani, G. F. Hoffmann
Storage policies and use of the Danish Newborn Screening Biobank
B. Nørgaard-Pedersen, D. M. Hougaard
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia
G. Gramer, P. Burgard, S. F. Garbade, M. Lindner
Congenital adrenal hyperplasia: Diagnostic advances
T. Torresani, Anna Biason-Lauber
Quality performance of newborn screening systems: Strategies for improvement
D. Webster
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004–2007)
D. Matern, S. Tortorelli, D. Oglesbee, D. Gavrilov, P. Rinaldo
An international training and support programme for the establishment of neonatal screening in developing countries
M. Fukushi
Structures for clinical follow-up: Newborn screening
R. Rodney Howell, Gilian Engelson
A retrospective ESI-MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood
H. Kobayashi, Y. Hasegawa, M. Endo, J. Purevsuren, S. Yamaguchi
Population quantile-quantile plots for monitoring assay performance in newborn screening
R. J. Pollitt, A. J. Matthews
Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in Japan
K. Aoki, M. Ohwada, T. Kitagawa
First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17α-hydroxyprogesterone in blood spots
L. H. Elvers, J. G. Loeber, J.-L. Dhondt, M. Fukushi, W. H. Hannon, T. Torresani, D. Webster
Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia
J. F. W. Weigel, N. Janzen, R. W. Pfäffle, J. Thiery, W. Kiess, U. Ceglarek
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene
O. Y. Al-Dirbashi, K. K. Abu-Amero, A. F. Alswaid, G. F. Hoffmann, K. Al-Qahtani, M. S. Rashed
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease
O. Y. Al-Dirbashi, M. S. Rashed, K Al-Qahtani, M. A. Al-Mokhadab, W. Kurdi, M. A. A. Al-Sayed
Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations
M. Roussey, A. Le Bihannic, V. Scotet, M. P. Audrezet, M. Blayau, M. Dagorne, V. David, E. Deneuville, J. L. Giniès, M. Laurans, V. Moisan-Petit, G. Rault, P. Vigneron, C. Férec
Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients
Z. Lukacs, R. Hartung, M. Beck, A. Keil, E. Mengel
Newborn screening: A national public health programme in Brazil
T. Marini de Carvalho, H. Pimentel dos Santos, I. C. G. P. dos Santos, P. R. Vargas, J. Pedrosa