Ausgabe 1/2011
Inhalt (29 Artikel)
Foreword to special issue on homocysteine disorders
Brian Fowler, Henk J. Blom, Viktor Kožich
Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur
Martha H. Stipanuk, Iori Ueki
Vascular presentation of cystathionine beta-synthase deficiency in adulthood
Martin Magner, Lucie Krupková, Tomáš Honzík, Jiří Zeman, Josef Hyánek, Viktor Kožich
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones
Jana Kopecká, Jakub Krijt, Kateřina Raková, Viktor Kožich
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
Jakub Krijt, Jana Kopecká, Aleš Hnízda, Stuart Moat, Leo A. J. Kluijtmans, Philip Mayne, Viktor Kožich
Homocysteine is transported by the microvillous plasma membrane of human placenta
Eleni Tsitsiou, Colin P. Sibley, Stephen W. D’Souza, Otilia Catanescu, Donald W. Jacobsen, Jocelyn D. Glazier
Mandatory fortification of the food supply with cobalamin: an idea whose time has not yet come
Ralph Carmel
Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects
Henk J. Blom, Yvo Smulders
Homocysteine and vascular disease: review of published results of the homocysteine-lowering trials
Robert Clarke, Jim Halsey, Derrick Bennett, Sarah Lewington
The homocysteine controversy
Yvo M. Smulders, Henk J. Blom
Folate and cancer: how DNA damage, repair and methylation impact on colon carcinogenesis
Susan J. Duthie
Cobalamin status in children
Anne-Lise Bjørke-Monsen, Per Magne Ueland
LMBRD1: the gene for the cblF defect of vitamin B12 metabolism
Frank Rutsch, Susann Gailus, Terttu Suormala, Brian Fowler
Cobalamin C defect: natural history, pathophysiology, and treatment
Diego Martinelli, Federica Deodato, Carlo Dionisi-Vici
Isolated remethylation disorders: do our treatments benefit patients?
Manuel Schiff, Jean-François Benoist, Bogdana Tilea, Nicolas Royer, Stéphane Giraudier, Hélène Ogier de Baulny
Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes
Andrea K. Lawrance, Julie Racine, Liyuan Deng, Xiaoling Wang, Pierre Lachapelle, Rima Rozen
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
Annet M. Bosch, Nico G. G. M. Abeling, Lodewijk IJlst, Hennie Knoester, W. Ludo van der Pol, Alida E. M. Stroomer, Ronald J. Wanders, Gepke Visser, Frits A. Wijburg, Marinus Duran, Hans R. Waterham
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial
Amber E. ten Hoedt, Leo M. J. de Sonneville, Baudouin Francois, Nienke M. ter Horst, Mirian C. H. Janssen, M. Estela Rubio-Gozalbo, Frits A. Wijburg, Carla E. M. Hollak, Annet M. Bosch
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
Osama Y. Al-Dirbashi, Stefan Kölker, Dione Ng, Lawrence Fisher, Tony Rupar, Nathalie Lepage, Mohamed S. Rashed, Tomofumi Santa, Stephen I. Goodman, Michael T. Geraghty, Johannes Zschocke, Ernst Christensen, Georg F. Hoffmann, Pranesh Chakraborty
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
L. Tabatabaie, L. W. J. Klomp, M. E. Rubio-Gozalbo, L. J. M. Spaapen, A. A. M. Haagen, L. Dorland, T. J. de Koning
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening
Jolanta Sykut-Cegielska, Wanda Gradowska, Dorota Piekutowska-Abramczuk, Brage S. Andresen, Rikke K. J. Olsen, Mariusz Ołtarzewski, Maciej Pronicki, Magdalena Pajdowska, Anna Bogdańska, Ewa Jabłońska, Barbara Radomyska, Katarzyna Kuśmierska, Małgorzata Krajewska-Walasek, Niels Gregersen, Ewa Pronicka
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
Ulrike Schara, Jürgen-Christoph von Kleist-Retzow, Elke Lainka, Patrick Gerner, Angela Pyle, Paul M. Smith, Hanns Lochmüller, Birgit Czermin, Angela Abicht, Elke Holinski-Feder, Rita Horvath
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II
G. Schulze-Frenking, Simon A. Jones, J. Roberts, M. Beck, J. E. Wraith
Gaucher disease in sheep
Litsa Karageorgos, Malcolm J. Lancaster, Judith S. Nimmo, John J. Hopwood
Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study
Mette Christophersen Tollånes, Aasne Karine Aarsand, Sverre Sandberg
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R
Alev Hasanoglu, Manisha Balwani, Çiğdem S. Kasapkara, Fatih S. Ezgü, İlyas Okur, Leyla Tümer, Alpay Çakmak, Irina Nazarenko, Chunli Yu, Sonia Clavero, David F. Bishop, Robert J. Desnick
Gaucher disease with foamy transformed macrophages and erythrophagocytic activity
Maciej Machaczka, Monika Klimkowska, Sofie Regenthal, Hans Hägglund
Letter concerning “Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha”, by Tanaka et al.
Gabor E. Linthorst, Johannes M. F. G. Aerts