Issue 1/2014
Content (21 Articles)
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity
Louise D. Archer, Kia J. Langford-Smith, Brian W. Bigger, James E. Fildes
C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA
Simon Marlaire, Emile Van Schaftingen, Maria Veiga-da-Cunha
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Corinne M. Rüegger, Martin Lindner, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Anibh Das, Matthias Gautschi, Esther M. Glahn, Sarah C. Grünert, Julia Hennermann, Michel Hochuli, Martina Huemer, Daniela Karall, Stefan Kölker, Robin H. Lachmann, Amelie Lotz-Havla, Dorothea Möslinger, Jean-Marc Nuoffer, Barbara Plecko, Frank Rutsch, René Santer, Ute Spiekerkoetter, Christian Staufner, Tamar Stricker, Frits A. Wijburg, Monique Williams, Peter Burgard, Johannes Häberle
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia
Tamaris Zwickler, Alina Riderer, Gisela Haege, Georg F. Hoffmann, Stefan Kölker, Peter Burgard
Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects
Shoji Yano, Kathryn Moseley, Teodoro Bottiglieri, Erland Arning, Colleen Azen
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal
Ana I. Coelho, Ruben Ramos, Ana Gaspar, Cláudia Costa, Anabela Oliveira, Luísa Diogo, Paula Garcia, Sandra Paiva, Esmeralda Martins, Elisa Leão Teles, Esmeralda Rodrigues, M. Teresa Cardoso, Elena Ferreira, Sílvia Sequeira, Margarida Leite, Maria João Silva, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera
Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency
Nuria Buján, Angela Arias, Raquel Montero, Judit García-Villoria, Willy Lissens, Sara Seneca, Carmen Espinós, Plácido Navas, Linda De Meirleir, Rafael Artuch, Paz Briones, Antonia Ribes
Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits
Emily R. Hautman, Amanda N. Kokenge, Kenea C. Udobi, Michael T. Williams, Charles V. Vorhees, Matthew R. Skelton
Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center
Kariman Abelin Genevois, Christophe Garin, Federico Solla, Nathalie Guffon, Rémi Kohler
The natural course and complications of alpha-mannosidosis—a retrospective and descriptive study
Dag Malm, Hilde Monica Frostad Riise Stensland, Øyvind Edvardsen, Øivind Nilssen
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1
Stephanie M. Cologna, Celine V. M. Cluzeau, Nicole M. Yanjanin, Paul S. Blank, Michelle K. Dail, Stephan Siebel, Cynthia L. Toth, Christopher A. Wassif, Andrew P. Lieberman, Forbes D. Porter
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
James E. Wraith, Frédéric Sedel, Mercèdes Pineda, Frits A. Wijburg, Christian J. Hendriksz, Michael Fahey, Mark Walterfang, Marc C. Patterson, Harbajan Chadha-Boreham, Stefan A. Kolb
Case-finding in Fabry disease: experience from the North of England
Paul Brennan, Oliver Parkes
Early cardiovascular remodelling in Fabry disease
Luca Costanzo, Sergio Buccheri, Piera Capranzano, Luigi Di Pino, Giuseppina Curatolo, Margherita Rodolico, Stefano Leggio, Anita Blundo, Corrado Tamburino, Ines Monte
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
Filip Majer, Ondrej Pelak, Tomas Kalina, Hana Vlaskova, Lenka Dvorakova, Tomas Honzik, Tomas Palecek, Petr Kuchynka, Martin Masek, Jiri Zeman, Milan Elleder, Jakub Sikora
Glutathione metabolism in cobalamin deficiency type C (cblC)
Anna Pastore, Diego Martinelli, Fiorella Piemonte, Giulia Tozzi, Sara Boenzi, Gianna Di Giovamberardino, Sara Petrillo, Enrico Bertini, Carlo Dionisi-Vici
Concordance rates of Wilson’s disease phenotype among siblings
Grzegorz Chabik, Tomasz Litwin, Anna Członkowska
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data
Julien Baruteau, Philippe Sachs, Pierre Broué, Michele Brivet, Hendy Abdoul, Christine Vianey-Saban, Hélène Ogier de Baulny
Letter to the Editors: Concerning “CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy” by Al Khallaf et al
Sean N. Prater, Suhrad G. Banugaria, Claire Morgan, Crystal C. Sung, Amy S. Rosenberg, Priya S. Kishnani
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease
Antonio Pisani, Caterina Porto, Generoso Andria, Giancarlo Parenti
Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment
Neal J. Weinreb, Jack Goldblatt, Jacobo Villalobos, Joel Charrow, J. Alexander Cole, Marcelo Kerstenetzky, Stephan vom Dahl, Carla Hollak