Ausgabe 3/2016
Inhalt (17 Artikel)
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
Johannes Zschocke, Matthias R. Baumgartner, Eva Morava, Marc C. Patterson, Verena Peters, Shamima Rahman
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
Martina Huemer, Daniel R. Carvalho, Jaime M. Brum, Özlem Ünal, Turgay Coskun, James D. Weisfeld-Adams, Nina L. Schrager, Sabine Scholl-Bürgi, Andrea Schlune, Markus G. Donner, Martin Hersberger, Claudio Gemperle, Brunhilde Riesner, Hanno Ulmer, Johannes Häberle, Daniela Karall
Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, Vassili Valayannopoulos, Allan M. Lund, Frits A. Wijburg, Peter Freisinger, Ivo Barić, Matthias R. Baumgartner, Peter Burgard, Alberto B. Burlina, Kimberly A. Chapman, Elisenda Cortès i Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut-Cegielska, John H. Walter, Jiri Zeman, Brigitte Chabrol, Stefan Kölker, Lise Aksglaede, Paula Avram, Elena Balmaseda-Serrano, Eric Bauchart, Javier Blasco-Alonso, Anaïs Brassier, Anupam Chakrapani, Yin-Hsiu Chien, Maria L. Couce, Corinne de Laet, Pascale de Lonlay, Linda de Meirleir, Carlo Dionisi-Vici, Dries Dobbelaere, Angeles Garcia-Cazorla, Florian Gleich, Wanda Gradowska, Stephanie Grünewald, Gisela Haege, Johannes Häberle, Wuh-Liang Hwu, Harikleia Ioannou, Robin Lachmann, Eveline Langereis, Elisa Leão Teles, Eduardo López-Laso, Shirou Matsumoto, Hélène Ogier de Baulny, Carlos Ortez, Luis Peña-Quintana, Angeles Ruiz-Gomez, Adrijan Sarajlija, Marshall L. Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, Monique Williams, Matthias Zielonka
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
Rianne Jahja, Francjan J. van Spronsen, Leo M. J. de Sonneville, Jaap J. van der Meere, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Martijn C. G. J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency
Kathryn E. Coakley, Teresa D. Douglas, Michael Goodman, Usha Ramakrishnan, Steven F. Dobrowolski, Rani H. Singh
On the phenotypic spectrum of serine biosynthesis defects
Ayman W. El-Hattab, Ranad Shaheen, Jozef Hertecant, Hassan I. Galadari, Badi S. Albaqawi, Amira Nabil, Fowzan S. Alkuraya
Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study
C. M. van Gelder, E. Poelman, I. Plug, M. Hoogeveen-Westerveld, N. A. M. E. van der Beek, A. J. J. Reuser, A. T. van der Ploeg
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
Federica Montagnese, Francesca Granata, Olimpia Musumeci, Carmelo Rodolico, Stefania Mondello, Emanuele Barca, Maria Cucinotta, Anna Ciranni, Marcello Longo, Antonio Toscano
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation
Colin S. McCoin, Brian D. Piccolo, Trina A. Knotts, Dietrich Matern, Jerry Vockley, Melanie B. Gillingham, Sean H. Adams
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment
Bryony Ryder, Detlef Knoll, Donald R. Love, Phillip Shepherd, Jennifer M. Love, Peter W. Reed, Mark de Hora, Dianne Webster, Emma Glamuzina, Callum Wilson
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome
Marta Kanabus, Elisa Fassone, Sean David Hughes, Sara Farahi Bilooei, Tricia Rutherford, Maura O’ Donnell, Simon J. R. Heales, Shamima Rahman
Mitochondrial dysfunction in liver failure requiring transplantation
Maria Lane, Veronika Boczonadi, Sahar Bachtari, Aurora Gomez-Duran, Thorsten Langer, Alexandra Griffiths, Stephanie Kleinle, Christine Dineiger, Angela Abicht, Elke Holinski-Feder, Ulrike Schara, Patrick Gerner, Rita Horvath
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
O. L. M. Meijer, L. Welling, M. J. Valstar, L. H. Hoefsloot, H. T. Brüggenwirth, A. T. van der Ploeg, G. J. G. Ruijter, T. Wagemans, F. A. Wijburg, N. van Vlies
Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice
Xing-Li Meng, Taniqua S. Day, Nathan McNeill, Paula Ashcraft, Thomas Frischmuth, Seng H. Cheng, Zhi-Ping Liu, Jin-Song Shen, Raphael Schiffmann
Altered mTOR signalling in nephropathic cystinosis
Ekaterina A. Ivanova, Lambertus P. van den Heuvel, Mohamed A. Elmonem, Humbert De Smedt, Ludwig Missiaen, Anna Pastore, Djalila Mekahli, Greet Bultynck, Elena N. Levtchenko
Acute cortical deafness in a child with MELAS syndrome
Marie P. Pittet, Roni B. Idan, Ilse Kern, Nils Guinand, Hélène Cao Van, Seema Toso, Joël Fluss