Ausgabe 2/2016
Inhalt (16 Artikel)
Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests
Florin Sasarman, Catalina Maftei, Philippe M. Campeau, Catherine Brunel-Guitton, Grant A. Mitchell, Pierre Allard
Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?
Shunji Tomatsu, Isabella Azario, Kazuki Sawamoto, Alice Silvia Pievani, Andrea Biondi, Marta Serafini
Acute fatal metabolic complications in alkaptonuria
A. S. Davison, A. M. Milan, J. A. Gallagher, L. R. Ranganath
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program
Jonathan Rips, Shlomo Almashanu, Hanna Mandel, Sagi Josephsberg, Tally Lerman-Sagie, Ayelet Zerem, Ben Podeh, Yair Anikster, Avraham Shaag, Anthony Luder, Orna Staretz Chacham, Ronen Spiegel
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years
Peter Burgard, Stefan Kölker, Gisela Haege, Martin Lindner, Georg F. Hoffmann
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Dagmar Jamiolkowski, Stefan Kölker, Esther M. Glahn, Ivo Barić, Jiri Zeman, Matthias R. Baumgartner, Chris Mühlhausen, Angels Garcia-Cazorla, Florian Gleich, Gisela Haege, Peter Burgard
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino, Marzia Bianchi, Daniela Buhas, Samir Mesli, Karin Naess, Alfred Peter Born, Berit Woldseth, Paolo Prontera, Mustafa Batbayli, Kirstine Ravn, Fróði Joensen, Duccio M. Cordelli, Filippo Maria Santorelli, Mar Tulinius, Niklas Darin, Morten Duno, Philippe Jouvencel, Alberto Burlina, Gabriela Stangoni, Enrico Bertini, Isabelle Redonnet-Vernhet, Flemming Wibrand, Carlo Dionisi-Vici, Johanna Uusimaa, Paivi Vieira, Andrés Nascimento Osorio, Robert McFarland, Robert W. Taylor, Elisabeth Holme, Elsebet Ostergaard
Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up
Deniz Güngör, Michelle E. Kruijshaar, Iris Plug, Dimitris Rizopoulos, Tim A. Kanters, Stephan C. A. Wens, Arnold J. J. Reuser, Pieter A. van Doorn, Ans T. van der Ploeg
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy
A. Broomfield, J. Fletcher, J. Davison, N. Finnegan, M. Fenton, A. Chikermane, C. Beesley, K. Harvey, E. Cullen, C. Stewart, S. Santra, S. Vijay, M. Champion, L. Abulhoul, S. Grunewald, A. Chakrapani, M. A. Cleary, S. A. Jones, A. Vellodi
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Christian Staufner, Martin Lindner, Carlo Dionisi-Vici, Peter Freisinger, Dries Dobbelaere, Claire Douillard, Nawal Makhseed, Beate K. Straub, Kimia Kahrizi, Diana Ballhausen, Giancarlo la Marca, Stefan Kölker, Dorothea Haas, Georg F. Hoffmann, Sarah C. Grünert, Henk J. Blom
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome
Berendine J. Ebbink, Marion M. G. Brands, Johanna M. P. van den Hout, Maarten H. Lequin, Robert R. J. Coebergh van den Braak, Rianne L. van de Weitgraven, Iris Plug, Femke K. Aarsen, Ans T. van der Ploeg
Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice
Jin-Song Shen, Andreas Busch, Taniqua S. Day, Xing-Li Meng, Chun I. Yu, Paulina Dabrowska-Schlepp, Benjamin Fode, Holger Niederkrüger, Sabrina Forni, Shuyuan Chen, Raphael Schiffmann, Thomas Frischmuth, Andreas Schaaf
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder
Jessie C. Jacobsen, Callum Wilson, Vicki Cunningham, Emma Glamuzina, Debra O. Prosser, Donald R. Love, Trent Burgess, Juliet Taylor, Brendan Swan, Rosamund Hill, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice
Germaine Korner, Tanja Scherer, Dea Adamsen, Alexander Rebuffat, Mark Crabtree, Anahita Rassi, Rossana Scavelli, Daigo Homma, Birgit Ledermann, Daniel Konrad, Hiroshi Ichinose, Christian Wolfrum, Marion Horsch, Birgit Rathkolb, Martin Klingenspor, Johannes Beckers, Eckhard Wolf, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Nenad Blau, Jan Rozman, Beat Thöny