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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 6/2015

Ausgabe 6/2015

Inhaltsverzeichnis ( 18 Artikel )

01.11.2015 | Editorial | Ausgabe 6/2015

Quo vadis: the re-definition of “inborn metabolic diseases”

Eva Morava, Shamima Rahman, Verena Peters, Matthias R. Baumgartner, Marc Patterson, Johannes Zschocke

01.11.2015 | Review | Ausgabe 6/2015 Open Access

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

01.11.2015 | Review | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015 Open Access

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis

R. J. Torres, J. G. Puig

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Original Article | Ausgabe 6/2015

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

01.11.2015 | Erratum | Ausgabe 6/2015

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

01.11.2015 | Erratum | Ausgabe 6/2015

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

01.11.2015 | Obituary | Ausgabe 6/2015

Elisabeth Holme

Gittan Kollberg, Peter Clayton

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