Ausgabe 4/2018
Inhalt (21 Artikel)
The role of suboptimal mitochondrial function in vulnerability to post-traumatic stress disorder
Graeme Preston, Faisal Kirdar, Tamas Kozicz
Focus on fatty acids in the neurometabolic pathophysiology of psychiatric disorders
R. J. T. Mocking, J. Assies, H. G. Ruhé, A. H. Schene
Inborn errors of metabolism associated with psychosis: literature review and case–control study using exome data from 5090 adult individuals
Yannis J. Trakadis, Vanessa Fulginiti, Mark Walterfang
Autism spectrum disorders in propionic acidemia patients
Caroline Dejean de la Bâtie, Valérie Barbier, Célina Roda, Anaïs Brassier, Jean-Baptiste Arnoux, Vassili Valayannopoulos, Anne-Sophie Guemann, Clément Pontoizeau, Stéphanie Gobin, Florence Habarou, Florence Lacaille, Jean-Paul Bonnefont, Pierre Canouï, Chris Ottolenghi, Pascale De Lonlay, Lisa Ouss
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease
Giselli Scaini, Tássia Tonon, Carolina F. Moura de Souza, Patricia F. Schuck, Gustavo C. Ferreira, João Quevedo, João Seda Neto, Tatiana Amorim, Jose S. Camelo Jr, Ana Vitoria Barban Margutti, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Raquel Boy, Paula F. V. de Medeiros, Ida Vanessa D. Schwartz, Emilio Luiz Streck
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis
Bianca M. L. Stelten, Olivier Bonnot, Hidde H. Huidekoper, Francjan J. van Spronsen, Peter M. van Hasselt, Leo A. J. Kluijtmans, Ron A. Wevers, Aad Verrips
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis
Janice C. Wong, Kailey Walsh, Douglas Hayden, Florian S. Eichler
Biochemical markers and neuropsychological functioning in distal urea cycle disorders
Susan E. Waisbren, David Cuthbertson, Peter Burgard, Amy Holbert, Robert McCarter, Stephen Cederbaum, Nicholas Ah Mew, Mark L. Batshaw, Matthias R. Baumgartner, Susan A. Berry, Curtis Coughlin, Stephen Cederbaum, George A. Diaz, Annette Feigenbaum, Renata C. Gallagher, Andrea Gropman, Cary O. Harding, Georg Hoffmann, Douglas S. Kerr, Brendan Lee, Cynthia Le Mons, Uta Lichter-Konecki, Shawn E. McCandless, J. Lawrence Merritt II, Sandesh C. S. Nagamani, Andreas Schulze, Margretta R. Seashore, Tamar Stricker, Marshall L. Summar, Mendel Tuchman, Susan Waisbren, James Weisfeld-Adams, Derek Wong, Marc Yudkoff
MPS-IIIA mice acquire autistic behaviours with age
Adeline A. Lau, Sarah J. Tamang, Kim M. Hemsley
AMP-activated protein kinase activation in mediating phenylalanine-induced neurotoxicity in experimental models of phenylketonuria
Lihua Lu, Xiaoming Ben, Lingling Xiao, Min Peng, Yongjun Zhang
The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders
Nina Hediger, Markus A. Landolt, Carmen Diez-Fernandez, Martina Huemer, Johannes Häberle
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies
Kara R. Vogel, Garrett R. Ainslie, Dana C. Walters, Alice McConnell, Sameer C. Dhamne, Alexander Rotenberg, Jean-Baptiste Roullet, K. Michael Gibson
Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice
Tanja Scherer, Gabriella Allegri, Christineh N. Sarkissian, Ming Ying, Hiu Man Grisch-Chan, Anahita Rassi, Shelley R. Winn, Cary O. Harding, Aurora Martinez, Beat Thöny
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9
Amanda C. Smith, Yoko Ito, Afsana Ahmed, Jeremy A. Schwartzentruber, Chandree L. Beaulieu, Erika Aberg, Jacek Majewski, Dennis E. Bulman, Karina Horsting-Wethly, Diana Vermunt-de Koning, Richard J. Rodenburg, Kym M. Boycott, Lynette S. Penney
Quantification of gait in children with mitochondrial disease
Saskia Koene, Niki M. Stolwijk, Rob Ramakers, Maaike de Vries, Lonneke de Boer, Mirian C. H. Janssen, Imelda de Groot, Jan Smeitink
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, Vassili Valayannopoulos, Allan M. Lund, Frits A. Wijburg, Peter Freisinger, Ivo Barić, Matthias R. Baumgartner, Peter Burgard, Alberto B. Burlina, Kimberly A. Chapman, Elisenda Cortès i Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut-Cegielska, John H. Walter, Jiri Zeman, Brigitte Chabrol, Stefan Kölker, Lise Aksglaede, Paula Avram, Elena Balmaseda-Serrano, Eric Bauchart, Javier Blasco-Alonso, Anaïs Brassier, Anupam Chakrapani, Yin-Hsiu Chien, Maria L. Couce, Corinne de Laet, Pascale de Lonlay, Linda de Meirleir, Carlo Dionisi-Vici, Dries Dobbelaere, Angeles Garcia-Cazorla, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Gisela Haege, Johannes Häberle, Wuh-Liang Hwu, Harikleia Ioannou, Robin Lachmann, Eveline Langereis, Elisa Leão Teles, Eduardo López-Laso, Shirou Matsumoto, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña-Quintana, Angeles Ruiz-Gomez, Adrijan Sarajlija, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, Monique Williams, Matthias Zielonka
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Roland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, Elisa Leão Teles, Carlo Dionisi-Vici, Anaïs Brassier, Alberto B. Burlina, Peter Burgard, Elisenda Cortès-Saladelafont, Dries Dobbelaere, Maria L. Couce, Jolanta Sykut-Cegielska, Johannes Häberle, Allan M. Lund, Anupam Chakrapani, Manuel Schiff, John H. Walter, Jiri Zeman, Roshni Vara, Stefan Kölker, Jean-Baptiste Arnoux, Ivo Barić, Eric Bauchart, Matthias R. Baumgartner, Javier Blasco-Alonso, Maria Teresa Cardoso, Brigitte Chabrol, Maja Djordjevic, Francois Eyskens, Peter Freisinger, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Gisela Haege, Wuh-Liang Hwu, Hariklea Ioannou, Anil Jalan, Daniela Karall, Corinne de Laet, Martin Lindner, Pascale de Lonlay, Diego Martinelli, Linda de Meirleir, Karine Mention, Chris Mühlhausen, Elaine Murphy, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña-Quintana, Victoria Riches, Esmeralda Rodrigues, Etienne Sokal, Nicholas Thompson, Frits A. Wijburg, Monique Williams, Matthias Zielonka
Mulberries in the urine: a tell-tale sign of Fabry disease
Pin Fee Chong, Kimitoshi Nakamura, Ryutaro Kira