Ausgabe 5/2014
Inhalt (19 Artikel)
Inborn errors of purine metabolism: clinical update and therapies
Shanti Balasubramaniam, John A. Duley, John Christodoulou
Inborn errors of pyrimidine metabolism: clinical update and therapy
Shanti Balasubramaniam, John A. Duley, John Christodoulou
Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism
Olga Pougovkina, Heleen te Brinke, Ronald J. A. Wanders, Sander M. Houten, Vincent C. J. de Boer
X-linked creatine transporter deficiency: clinical aspects and pathophysiology
Jiddeke M. van de Kamp, Grazia M. Mancini, Gajja S. Salomons
Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU)
Cary O. Harding, Shelley R. Winn, K. Michael Gibson, Erland Arning, Teodoro Bottiglieri, Markus Grompe
Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function
David C. Bartlett, Carla Lloyd, Patrick J. McKiernan, Phil N. Newsome
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
François Feillet, Ania C. Muntau, François-Guillaume Debray, Amelie S. Lotz-Havla, Alexandra Puchwein-Schwepcke, Ma’atem Béatrice Fofou-Caillierez, Francjan van Spronsen, Fritz Friedrich Trefz
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients
Sven F. Garbade, Cheryl R. Greenberg, Mübeccel Demirkol, Gülden Gökçay, Antonia Ribes, Jaume Campistol, Alberto B. Burlina, Peter Burgard, Stefan Kölker
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment
Chris Mühlhausen, Gajja S. Salomons, Zoltan Lukacs, Eduard A. Struys, Marjo S. van der Knaap, Kurt Ullrich, René Santer
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency
Terry G. J. Derks, Catharina M. L. Touw, Graziela S. Ribas, Giovana B. Biancini, Camila S. Vanzin, Giovanna Negretto, Caroline P. Mescka, Dirk Jan Reijngoud, G. Peter A. Smit, Moacir Wajner, Carmen R. Vargas
Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study
Raymond Y. Wang, Edwin S. Monuki, James Powers, Phillip H. Schwartz, Paul A. Watkins, Yang Shi, Ann Moser, David A. Shrier, Hans R. Waterham, Diane J. Nugent, Jose E. Abdenur
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation
Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Rutger Meinsma, Nico G. G. M. Abeling, Jeroen Roelofsen, Lida Zoetekouw, Yoriko Watanabe, Kyoko Tashiro, Tomoko Lee, Yasuhiro Takeshima, Hiroshi Mitsubuchi, Akira Yoneyama, Kazuhide Ohta, Kaoru Eto, Kayoko Saito, Tomiko Kuhara, André B. P. van Kuilenburg
Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models
Sandra D. K. Kingma, Tom Wagemans, Lodewijk IJlst, Frits A. Wijburg, Naomi van Vlies
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Christina Lampe, Ann-Kathrin Bosserhoff, Barbara K. Burton, Roberto Giugliani, Carolina F. de Souza, Camila Bittar, Nicole Muschol, Rebecca Olson, Nancy J. Mendelsohn
Clinical presentation and outcome in a series of 88 patients with the cblC defect
Sabine Fischer, Martina Huemer, Matthias Baumgartner, Federica Deodato, Diana Ballhausen, Avihu Boneh, Alberto B. Burlina, Roberto Cerone, Paula Garcia, Gülden Gökçay, Stephanie Grünewald, Johannes Häberle, Jaak Jaeken, David Ketteridge, Martin Lindner, Hanna Mandel, Diego Martinelli, Esmeralda G. Martins, Karl O. Schwab, Sarah C. Gruenert, Bernd C. Schwahn, László Sztriha, Maren Tomaske, Friedrich Trefz, Laura Vilarinho, David S. Rosenblatt, Brian Fowler, Carlo Dionisi-Vici
Characterization of functional domains of the cblD (MMADHC) gene product
Jehona Jusufi, Terttu Suormala, Patricie Burda, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner
Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid
Dongling Dai, Philippa B. Mills, Emma Footitt, Paul Gissen, Patricia McClean, Jens Stahlschmidt, Isabelle Coupry, Julie Lavie, Fanny Mochel, Cyril Goizet, Tatsuki Mizuochi, Akihiko Kimura, Hiroshi Nittono, Karin Schwarz, Peter J. Crick, Yuqin Wang, William J. Griffiths, Peter T. Clayton
Constant high adrenal FDG uptake in PET/CT associated with mitochondrial disease
Mika H. Martikainen, Ulla Hohenthal, Laura Pirilä, Jukka Kemppainen