Ausgabe 5/2016
Inhalt (20 Artikel)
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder
Sophie Collardeau-Frachon, Marie-Pierre Cordier, Massimiliano Rossi, Laurent Guibaud, Christine Vianey-Saban
Antenatal manifestations of inborn errors of metabolism: biological diagnosis
Christine Vianey-Saban, Cécile Acquaviva, David Cheillan, Sophie Collardeau-Frachon, Laurent Guibaud, Cécile Pagan, Magali Pettazzoni, Monique Piraud, Antonin Lamazière, Roseline Froissart
Genetic cause and prevalence of hydroxyprolinemia
Christian Staufner, Tobias B. Haack, Patrik Feyh, Gwendolyn Gramer, Deepthi Ediga Raga, Caterina Terrile, Sven Sauer, Jürgen G. Okun, Junmin Fang-Hoffmann, Ertan Mayatepek, Holger Prokisch, Georg F. Hoffmann, Stefan Kölker
Appropriateness of newborn screening for classic galactosaemia: a systematic review
L. Varela-Lema, L. Paz-Valinas, G. Atienza-Merino, R. Zubizarreta-Alberdi, R. Vizoso Villares, M. López-García
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry
Hubertus C. M. T. Prinsen, B. G. M. Schiebergen-Bronkhorst, M. W. Roeleveld, J. J. M. Jans, M. G. M. de Sain-van der Velden, G. Visser, P. M. van Hasselt, N. M. Verhoeven-Duif
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
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice
Megan A. Hillgartner, Sarah B. Coker, Ashton E. Koenig, Marissa E. Moore, Elizabeth Barnby, Gordon G. MacGregor
Qualitative urinary organic acid analysis: 10 years of quality assurance
Verena Peters, James R. Bonham, Georg F. Hoffmann, Camilla Scott, Claus-Dieter Langhans
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency
Carlo Dionisi-Vici, Eyal Shteyer, Marcello Niceta, Cristiano Rizzo, Ben Pode-Shakked, Giovanni Chillemi, Alessandro Bruselles, Michela Semeraro, Ortal Barel, Eran Eyal, Nitzan Kol, Yael Haberman, Avishai Lahad, Francesca Diomedi-Camassei, Dina Marek-Yagel, Gideon Rechavi, Marco Tartaglia, Yair Anikster
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Christiaan P. Sentner, Irene J. Hoogeveen, David A. Weinstein, René Santer, Elaine Murphy, Patrick J. McKiernan, Ulrike Steuerwald, Nicholas J. Beauchamp, Joanna Taybert, Pascal Laforêt, François M. Petit, Aurélie Hubert, Philippe Labrune, G. Peter A. Smit, Terry G. J. Derks
International Paediatric Mitochondrial Disease Scale
Saskia Koene, Jan C. M. Hendriks, Ilse Dirks, Lonneke de Boer, Maaike C. de Vries, Mirian C. H. Janssen, Izelle Smuts, Cheuk-Wing Fung, Virginia C. N. Wong, I. René F. M. de Coo, Katharina Vill, Claudia Stendel, Thomas Klopstock, Marni J. Falk, Elizabeth M. McCormick, Robert McFarland, Imelda J. M. de Groot, Jan A. M. Smeitink
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot Mulder, Estela Rubio-Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida V. D. Schwartz, Andrew Green, Mohammed Al-Owain, Graciella Uziel, Sabine Sigaudy, Brigitte Chabrol, Franc-Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers
A novel method for determining peroxisomal fatty acid β-oxidation
Masashi Morita, Shun Matsumoto, Airi Okazaki, Kaito Tomita, Shiro Watanabe, Kosuke Kawaguchi, Daishiro Minato, Yuji Matsuya, Nobuyuki Shimozawa, Tsuneo Imanaka
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
Déborah Mathis, Lucia Abela, Monique Albersen, Céline Bürer, Lisa Crowther, Karin Beese, Hans Hartmann, Levinus A. Bok, Eduard Struys, Sorina M. Papuc, Anita Rauch, Martin Hersberger, Nanda M. Verhoeven-Duif, Barbara Plecko
Phenotyping GABA transaminase deficiency: a case description and literature review
Pedro Louro, Lina Ramos, Conceição Robalo, Cândida Cancelinha, Alexandra Dinis, Ricardo Veiga, Raquel Pina, Olinda Rebelo, Ana Pop, Luísa Diogo, Gajja S. Salomons, Paula Garcia
On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism
Nikita Ikon, Robert O. Ryan
Erratum to: 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
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot Mulder, Estela Rubio-Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida V. D. Schwartz, Andrew Green, Mohammed Al-Owain, Graciella Uziel, Sabine Sigaudy, Brigitte Chabrol, Franc-Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers