Ausgabe 2/2015
Inhalt (26 Artikel)
Disease severity and clinical outcome in phosphosglucomutase deficiency
Eva Morava, Sunnie Wong, Dirk Lefeber
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation
Marta Kanabus, Rojeen Shahni, José W. Saldanha, Elaine Murphy, Vincent Plagnol, William Van’t Hoff, Simon Heales, Shamima Rahman
The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications
Gisela Nogales-Gadea, Alfredo Santalla, Astrid Brull, Noemi de Luna, Alejandro Lucia, Tomàs Pinós
Adenylosuccinate lyase deficiency
Agnieszka Jurecka, Marie Zikanova, Stanislav Kmoch, Anna Tylki-Szymańska
Lung involvement in children with lysinuric protein intolerance
Sarah Valimahamed-Mitha, Laureline Berteloot, Héloise Ducoin, Chris Ottolenghi, Pascale de Lonlay, Jacques de Blic
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I
Roland Posset, Silvana Opp, Eduard A. Struys, Alfred Völkl, Heribert Mohr, Georg F. Hoffmann, Stefan Kölker, Sven W. Sauer, Jürgen G. Okun
Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria
Zoltan Patay, Brent A. Orr, Barry L. Shulkin, Scott N. Hwang, Yuan Ying, Alberto Broniscer, Frederick A. Boop, David W. Ellison
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
Ann Bowron, Julie Honeychurch, Maggie Williams, Beverley Tsai-Goodman, Nicol Clayton, Lucy Jones, Graham J. Shortland, Shakeel A. Qureshi, Simon J. R. Heales, Colin G. Steward
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate
Petra Melenovská, Jana Kopecká, Jakub Krijt, Aleš Hnízda, Kateřina Raková, Miroslav Janošík, Bridget Wilcken, Viktor Kožich
White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging
Inge Timmers, Hui Zhang, Matteo Bastiani, Bernadette M. Jansma, Alard Roebroeck, M. Estela Rubio-Gozalbo
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease
Carin M. van Gelder, Marianne Hoogeveen-Westerveld, Marian A. Kroos, Iris Plug, Ans T. van der Ploeg, Arnold J. J. Reuser
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast
C. Bieneck Haglind, A. Nordenström, S. Ask, U. von Döbeln, J. Gustafsson, M. Halldin Stenlid
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey
Marion M. G. Brands, Deniz Güngör, Johanna M. P. van den Hout, Francois P. J. Karstens, Esmee Oussoren, Iris Plug, Jaap Jan Boelens, Peter M. van Hasselt, Carla E. M. Hollak, Margot F. Mulder, Estela Rubio Gozalbo, Jan A. Smeitink, G. Peter A. Smit, Frits A. Wijburg, Hanka Meutgeert, Ans T. van der Ploeg
Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II
Kentaro Yokoi, Kazumasa Akiyama, Eiko Kaneshiro, Takashi Higuchi, Yohta Shimada, Hiroshi Kobayashi, Masaharu Akiyama, Makoto Otsu, Hiromitsu Nakauchi, Toya Ohashi, Hiroyuki Ida
Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain
Barbara King, Neil Marshall, Helen Beard, Sofia Hassiotis, Paul J. Trim, Marten F. Snel, Tina Rozaklis, Robert D. Jolly, John J. Hopwood, Kim M. Hemsley
Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy
Eefje B. Suntjens, Bouwien E. Smid, Marieke Biegstraaten, Wouter A. Dreschler, Carla E. M. Hollak, Gabor E. Linthorst
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study
Björn M. van Geel, Bwee Tien Poll-The, Aad Verrips, Jaap-Jan Boelens, Stephan Kemp, Marc Engelen
Look carefully to the heels! A potentially treatable cause of spastic paraplegia
Jonas Alex Saute, Roberto Giugliani, Louise S. Merkens, John (Pei-Wen) Chiang, Andrea E. DeBarber, Carolina Fischinger Moura de Souza
Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?
James D. Weisfeld-Adams, Peter R. Baker
Raynaud’s phenomenon associated with Fabry disease
Dominique P. Germain, Oana I. Atanasiu, Jouda Akrout-Marouene, Karelle Benistan
Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?
Jean Bastin, Jean-Paul Bonnefont, Fatima Djouadi, Jean-Louis Bresson
No effect of bezafibrate in patients with CPTII and VLCAD deficiencies
Mette Cathrine Ørngreen, John Vissing, Pascal Laforét
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism
L. H. P. Vroegindeweij, A. J. W. Boon, J. H. P. Wilson, J. G. Langendonk
Erratum to: Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast
C. Bieneck Haglind, A. Nordenström, S. Ask, U. von Döbeln, J. Gustafsson, M. Halldin Stenlid