Ausgabe Sonderheft 1/2003
Inhalt (18 Artikel)
Preface
Early diagnosis of inherited metabolic diseases: towards improving outcome
Erik Harms, Adelbert Roscher, Cornelis Jakobs, Sylvia Stöckler-Ipsiroglu
Article
Technology challenges in screening single gene disorders
Andreas Braun, Richard Roth, Matthew J. McGinniss
Article
Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution
Andrea Superti-Furga
Article
The impact of screening for propionic and methylmalonic acidaemia
James V. Leonard, Suresh Vijayaraghavan, John H. Walter
Article
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening
Claude Bachmann
Article
Lysosomal storage disorders: emerging therapeutic options require early diagnosis
Peter J. Meikle, John J. Hopwood
Article
Screening for cystic fibrosis: the practice and the debate
James R. Bonham, Melanie Downing, Ann Dalton
Article
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies
Dorothea Möslinger, Adolf Mühl, Terttu Suormala, Regula Baumgartner, Sylvia Stöckler-Ipsiroglu
Article
Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia
Susanne Schweitzer-Krantz
Article
Data required for the evaluation of newborn screening programmes
Bernhard Liebl, Uta Nennstiel-Ratzel, Adelbert Roscher, Rüdiger von Kries
Article
Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases
Wulf Röschinger, Bernhard Olgemöller, Ralph Fingerhut, Bernhard Liebl, Adelbert A. Roscher