Ausgabe 2-3/2006
Inhalt (35 Artikel)
Clinical approach to treatable inborn metabolic diseases: An introduction
J.-M. Saudubray, F. Sedel, J. H. Walter
Komrower lecture: Treatment of inborn errors of metabolism: A review
J. V. Leonard
The use of amino acid supplements in inherited metabolic disease
John H. Walter, Anita MacDonald
Nutrition therapy of organic acidaemias with amino acid-based formulas: Emphasis on methylmalonic and propionic acidaemia
Steven Yannicelli
Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
G. Touati, V. Valayannopoulos, K. Mention, P. de Lonlay, P. Jouvet, E. Depondt, M. Assoun, J. C. Souberbielle, D. Rabier, H. Ogier de Baulny, J.-M. Saudubray
Breast feeding in IMD
A. MacDonald, E. Depondt, S. Evans, A. Daly, C. Hendriksz, A. Chakrapani A, J.-M. Saudubray
Breast feeding in organic acidaemias
G. Gokcay, T. Baykal, Y. Gokdemir, M. Demirkol
Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential
Charles R. Roe, Fanny Mochel
Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?
F. Djouadi, F. Aubey, D. Schlemmer, S. Gobin, P. Laforet, R. J. A. Wanders, A. W. Strauss, J. P. Bonnefont, J. Bastin
Carnitine supplementation induces long-chain acylcarnitine production—Studies in the VLCAD-deficient mouse
M. Liebig, M. Gyenes, G. Brauers, J. P. N. Ruiter, U. Wendel, E. Mayatepek, A. W. Strauss, R. J. A. Wanders, U. Spiekerkoetter
Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts
Efraim H. Rosenberg, Cristina Martínez Muñoz, Ton J. Degrauw, Cor nelis Jakobs, Gajja S. Salomons
Inborn error of amino acid synthesis: Human glutamine synthetase deficiency
Johannes Häberle, Boris Görg, Annick Toutain, Frank Rutsch, Jean-François Benoist, Antoinette Gelot, Annie-Laure Suc, Hans Georg Koch, Freimut Schliess, Dieter Häussinger
Impact of diets and nutrients/drugs on early epigenetic programming
Claudine Junien
Mini-Symposium: Newborn screening for inborn errors of metabolism—Clinical effectiveness
Bridget Wilcken
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective
William J. Rhead
Neonatal screening for glutaric aciduria type I: Strategies to proceed
M. Lindner, S. Ho, J. Fang-Hoffmann, G. F. Hoffmann, S. Kölker
‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
Carlo Dionisi-Vici, Federica Deodato, Wulf Röschinger, William Rhead, Bridget Wilcken
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
Michael H. Gelb, Frantisek Turecek, C. Ron Scott, Nestor A. Chamoles
Screening for lysosomal storage disorders—A clinical perspective
Janice M. Fletcher
Gene therapy of metabolic diseases
Alain Fischer, Salima Hacein-Bey-Abina, Marina Cavazzana-Calvo
Trends in haematopoietic cell transplantation for inborn errors of metabolism
Jaap Jan Boelens
Hepatocyte transplantation for liver-based metabolic disorders
Anil Dhawan, Ragai R. Mitry, Robin D. Hughes
Hepatocyte transplantation: Studies in preclinical models
Anne Weber, Dominique Mahieu-Caputo, Michelle Hadchouel, Dominique Franco
Substrate reduction therapy of glycosphingolipid storage disorders
Johannes M. F. G. Aerts, Carla E. M. Hollak, Rolf G. Boot, Johanna E. M. Groener, Mario Maas
Therapy through chaperones: Sense or antisense? Cystic fibrosis as a model disease
Margarida D. Amaral