Ausgabe 5/2015
Inhalt (26 Artikel)
Progress in Alkaptonuria – are we near to an effective therapy?
L. R. Ranganath, O. G. Timmis, J. A. Gallagher
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria
Jean-Baptiste Arnoux, Kim-Hanh Le Quan Sang, Anais Brassier, Coraline Grisel, Aude Servais, Julien Wippf, Sandrine Dubois, Nicolas Sireau, Chantal Job-Deslandre, Lakshminarayan Ranganath, Pascale de Lonlay
Amyloidosis in alkaptonuria
Lia Millucci, Daniela Braconi, Giulia Bernardini, Pietro Lupetti, Josef Rovensky, Lakshminaryan Ranganath, Annalisa Santucci
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria
Giulia Bernardini, Marcella Laschi, Michela Geminiani, Daniela Braconi, Elisa Vannuccini, Pietro Lupetti, Fabrizio Manetti, Lia Millucci, Annalisa Santucci
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
Liyan Hu, Amit V. Pandey, Cécile Balmer, Sandra Eggimann, Véronique Rüfenacht, Jean-Marc Nuoffer, Johannes Häberle
1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites
Inga Harting, Nikolas Boy, Jana Heringer, Angelika Seitz, Martin Bendszus, Petra J.W. Pouwels, Stefan Kölker
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review
Donna B. Raval, Melissa Merideth, Jennifer L. Sloan, Nancy E. Braverman, Robert L. Conway, Irini Manoli, Charles P. Venditti
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients
Yiouli P. Ktena, Trygg Ramstad, Eva H. Baker, Jennifer L. Sloan, Andrew J. Mannes, Irini Manoli, Charles P. Venditti
Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene
X. L. Wang, C. J. Li, Y. Xing, Y. H. Yang, J. P. Jia
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment
P. Burda, A. Kuster, O. Hjalmarson, T. Suormala, C. Bürer, S. Lutz, G. Roussey, L. Christa, J. Asin-Cayuela, G. Kollberg, B. A. Andersson, D. Watkins, D. S. Rosenblatt, B. Fowler, E. Holme, D. S. Froese, M. R. Baumgartner
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria
Jacob Hagen, Heleen te Brinke, Ronald J. A. Wanders, Alida C. Knegt, Esmee Oussoren, A. Jeannette M. Hoogeboom, George J. G. Ruijter, Daniel Becker, Karl Otfried Schwab, Ingo Franke, Marinus Duran, Hans R. Waterham, Jörn Oliver Sass, Sander M. Houten
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
Elise Lebigot, Anaïs Brassier, Mokhtar Zater, Dilek Imanci, François Feillet, Patrice Thérond, Pascale de Lonlay, Audrey Boutron
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
Mirjam M. C. Wamelink, Ruben J. J. F. Ramos, Annette P. M. van den Elzen, George J. G. Ruijter, Ramon Bonte, Luisa Diogo, Paula Garcia, Nelson Neves, Benjamin Nota, Arvand Haschemi, Isabel Tavares de Almeida, Gajja S. Salomons
Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate
Rosa Ferriero, Clara Iannuzzi, Giuseppe Manco, Nicola Brunetti-Pierri
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Martina Huemer, Daniela Karall, Anna Schossig, Jose E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi-Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles M. Lourenco, Sabine Scholl-Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome
Meghan S. Soustek, Celine Baligand, Darin J. Falk, Glenn A. Walter, Alfred S. Lewin, Barry J. Byrne
Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease
Coleman T. Turgeon, Joseph J. Orsini, Karen A. Sanders, Mark J. Magera, Thomas J. Langan, Maria L. Escolar, Patricia Duffner, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Piero Rinaldo, Kimiyo Raymond, Dietrich Matern
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach
K. Dörre, M. Olczak, Y. Wada, P. Sosicka, M. Grüneberg, J. Reunert, G. Kurlemann, B. Fiedler, S. Biskup, K. Hörtnagel, S. Rust, T. Marquardt
Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy
Katrina Celis, Scott Shuldiner, Eden V. Haverfield, Joshua Cappell, Rongze Yang, Da-Wei Gong, Wendy K. Chung
Bone demineralisation in a large cohort of Wilson disease patients
Karl Heinz Weiss, Mart Van de Moortele, Daniel Nils Gotthardt, Jan Pfeiffenberger, Jessica Seeßle, Elena Ullrich, Evelien Gielen, Herman Borghs, Els Adriaens, Wolfgang Stremmel, Wouter Meersseman, Steven Boonen, David Cassiman
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
M. Huemer, C. Bürer, P. Ješina, V. Kožich, M. A. Landolt, T. Suormala, B. Fowler, P. Augoustides- Savvopoulou, E. Blair, K. Brennerova, A. Broomfield, L. De Meirleir, G. Gökcay, J. Hennermann, P. Jardine, J. Koch, S. Lorenzl, A. S. Lotz-Havla, J. Noss, R. Parini, H. Peters, B. Plecko, F. J. Ramos, A. Schlune, K. Tsiakas, M. Zerjav Tansek, M. R. Baumgartner
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans
Marianna Caterino, Anna Pastore, Maria Grazia Strozziero, Gianna Di Giovamberardino, Esther Imperlini, Emanuela Scolamiero, Laura Ingenito, Sara Boenzi, Ferdinando Ceravolo, Diego Martinelli, Carlo Dionisi-Vici, Margherita Ruoppolo
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis
M. Brienza, G. Fiermonte, C. Cambieri, A. Mignarri, M. T. Dotti, M. Fiorelli
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease
Anne Drenckhahn, Markus Schuelke, Ellen Knierim
Determination of amylose/amylopectin ratio of starches
Tatiéle Nalin, Fernanda Sperb-Ludwig, Koen Venema, Terry G. J. Derks, Ida Vanessa D. Schwartz
Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases
Tatiéle Nalin, Koen Venema, David A. Weinstein, Carolina F. M de Souza, Ingrid D. S. Perry, Mario T. R. van Wandelen, Margreet van Rijn, G. Peter A. Smit, Ida V. D. Schwartz, Terry G. J. Derks