Issue 5/2010
Content (23 Articles)
Update on mitochondrial fatty acid oxidation disorders
Ute Spiekerkoetter, Ertan Mayatepek
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation
Sander Michel Houten, Ronald J. A. Wanders
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
Ronald J. A. Wanders, Jos P. N. Ruiter, Lodewijk IJlst, Hans R. Waterham, Sander M. Houten
Clinical and biochemical monitoring of patients with fatty acid oxidation disorders
Allan Meldgaard Lund, Flemming Skovby, Helle Vestergaard, Mette Christensen, Ernst Christensen
Fatty acid oxidation disorders: outcome and long-term prognosis
Bridget Wilcken
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency
Bianca T. van Maldegem, Ronald J. A. Wanders, Frits A. Wijburg
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
Ulrich A. Schatz, Regina Ensenauer
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting
Martin Lindner, Georg F. Hoffmann, Dietrich Matern
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
Ute Spiekerkoetter
Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models
Ute Spiekerkoetter, Philip A. Wood
Disease mechanisms and protein structures in fatty acid oxidation defects
Niels Gregersen, Rikke K. J. Olsen
Current issues regarding treatment of mitochondrial fatty acid oxidation disorders
Ute Spiekerkoetter, Jean Bastin, Melanie Gillingham, Andrew Morris, Frits Wijburg, Bridget Wilcken
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
Gunter Scharer, Chad Brocker, Vasilis Vasiliou, Geralyn Creadon-Swindell, Renata C. Gallagher, Elaine Spector, Johan L. K. Van Hove
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
Stephen G. Kaler, Clarissa J. Liew, Anthony Donsante, Julia D. Hicks, Susumu Sato, Jacquelyn C. Greenfield
A retrospective analysis of outcome of pregnancy in patients with acute porphyria
Joanne T. Marsden, David C. Rees
Hearing loss in Pompe disease revisited: results from a study of 24 children
Carine I. van Capelle, Andre Goedegebure, Nienke C. Homans, Hans L. J. Hoeve, Arnold J. Reuser, Ans T. van der Ploeg
The neuropsychological profile of galactosaemia
Claire M. Doyle, Shelley Channon, Danuta Orlowska, Philip J. Lee
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice
Ulla Dunder, Pirjo Valtonen, Eira Kelo, Ilkka Mononen
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
Hsiang-Yu Lin, Cheng-Hung Huang, Hsiao-Chi Yu, Kah-Wai Chong, Ju-Hui Hsu, Pi-Chang Lee, Kang-Hsiang Cheng, Chuan-Chi Chiang, Huey-Jane Ho, Shuan-Pei Lin, Shih-Jen Chen, Po-Kang Lin, Dau-Ming Niu
Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency
L. Henneman, M. S. Schneiders, M. Turkenburg, H. R. Waterham
Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement
Cinoo Kim, Jinho Jeong, Hyeong Gon Yu