Ausgabe 6/2015
Inhalt (18 Artikel)
Quo vadis: the re-definition of “inborn metabolic diseases”
Eva Morava, Shamima Rahman, Verena Peters, Matthias R. Baumgartner, Marc Patterson, Johannes Zschocke
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
Martina Huemer, Viktor Kožich, Piero Rinaldo, Matthias R. Baumgartner, Begoña Merinero, Elisabetta Pasquini, Antonia Ribes, Henk J. Blom
Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Guilhian Leipnitz, Carmen Regla Vargas, Moacir Wajner
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J. Miller, Adam D. Kennedy, Andrea D. Eckhart, Lindsay C. Burrage, Jacob E. Wulff, Luke A.D. Miller, Michael V. Milburn, John A. Ryals, Arthur L. Beaudet, Qin Sun, V. Reid Sutton, Sarah H. Elsea
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, Persephone Augoustides-Savvopoulou, Lise Aksglaede, Jean-Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco-Alonso, Brigitte Chabrol, Anupam Chakrapani, Kimberly Chapman, Elisenda Cortès i Saladelafont, Maria L. Couce, Linda de Meirleir, Dries Dobbelaere, Veronika Dvorakova, Francesca Furlan, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Anil Jalan, Johannes Häberle, Gisela Haege, Robin Lachmann, Alexander Laemmle, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña-Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl-Bürgi, Etienne Sokal, Christian Staufner, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H. Walter, Monique Williams, Peter Burgard
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, Jean-Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco-Alonso, S. P. Nikolas Boy, Marlene Bøgehus Rasmussen, Peter Burgard, Brigitte Chabrol, Anupam Chakrapani, Kimberly Chapman, Elisenda Cortès i Saladelafont, Maria L. Couce, Linda de Meirleir, Dries Dobbelaere, Francesca Furlan, Florian Gleich, Maria Julieta González, Wanda Gradowska, Stephanie Grünewald, Tomas Honzik, Friederike Hörster, Hariklea Ioannou, Anil Jalan, Johannes Häberle, Gisela Haege, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Elaine Murphy, Hélène Ogier de Baulny, Carlos Ortez, Consuelo C. Pedrón, Guillem Pintos-Morell, Luis Pena-Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl-Bürgi, Etienne Sokal, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H. Walter, Monique Williams, Allan M. Lund, Angeles Garcia Cazorla
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase
Liyan Hu, Khalid Ibrahim, Martin Stucki, Michele Frapolli, Noora Shahbeck, Farrukh A. Chaudhry, Boris Görg, Dieter Häussinger, W. Todd Penberthy, Tawfeg Ben-Omran, Johannes Häberle
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
Jillian P. Casey, Suzanne Slattery, Melanie Cotter, A. A. Monavari, Ina Knerr, Joanne Hughes, Eileen P. Treacy, Deirdre Devaney, Michael McDermott, Eoghan Laffan, Derek Wong, Sally Ann Lynch, Billy Bourke, Ellen Crushell
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study
Michel Hochuli, Emanuel Christ, Fabian Meienberg, Roger Lehmann, Jan Krützfeldt, Matthias R. Baumgartner
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
Goknur Haliloglu, Beril Talim, Cigdem Genc Sel, Haluk Topaloglu
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis
R. J. Torres, J. G. Puig
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis
L. Borgwardt, A. M. Thuesen, K. J. Olsen, J. Fogh, C. I. Dali, A. M. Lund
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease
Raphael Schiffmann, Caren Swift, Xuan Wang, Derek Blankenship, Markus Ries
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling
Nastassja Himmelreich, Lilian T. Kaufmann, Herbert Steinbeisser, Christian Körner, Christian Thiel
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
François-Guillaume Debray, Claudia Stümpfig, Arnaud V. Vanlander, Vinciane Dideberg, Claire Josse, Jean-Hubert Caberg, François Boemer, Vincent Bours, René Stevens, Sara Seneca, Joél Smet, Roland Lill, Rudy van Coster
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, Persephone Augoustides-Savvopoulou, Lise Aksglaede, Jean-Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco-Alonso, Brigitte Chabrol, Anupam Chakrapani, Kimberly Chapman, Elisenda Cortès i Saladelafont, Maria L. Couce, Linda de Meirleir, Dries Dobbelaere, Veronika Dvorakova, Francesca Furlan, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Anil Jalan, Johannes Häberle, Gisela Haege, Robin Lachmann, Alexander Laemmle, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña-Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl-Bürgi, Etienne Sokal, Christian Staufner, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H. Walter, Monique Williams, Peter Burgard
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, Jean-Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner, Javier Blasco-Alonso, S. P. Nikolas Boy, Marlene Bøgehus Rasmussen, Peter Burgard, Brigitte Chabrol, Anupam Chakrapani, Kimberly Chapman, Elisenda Cortès i Saladelafont, Maria L. Couce, Linda de Meirleir, Dries Dobbelaere, Francesca Furlan, Florian Gleich, Maria Julieta González, Wanda Gradowska, Stephanie Grünewald, Tomas Honzik, Friederike Hörster, Hariklea Ioannou, Anil Jalan, Johannes Häberle, Gisela Haege, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Elaine Murphy, Hélène Ogier de Baulny, Carlos Ortez, Consuelo C. Pedrón, Guillem Pintos-Morell, Luis Pena-Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl-Bürgi, Etienne Sokal, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H. Walter, Monique Williams, Allan M. Lund, Angeles Garcia Cazorla