Issue 6/2016
Content (16 Articles)
Immunological aspects of congenital disorders of glycosylation (CDG): a review
Maria Monticelli, Tiago Ferro, Jaak Jaeken, Vanessa dos Reis Ferreira, Paula A. Videira
Differential diagnosis of lipoic acid synthesis defects
Frederic Tort, Xènia Ferrer-Cortes, Antonia Ribes
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
E. E. Jansen, K. R. Vogel, G. S. Salomons, P. L. Pearl, J.-B. Roullet, K. M. Gibson
Angiogenesis in alkaptonuria
Lia Millucci, Giulia Bernardini, Barbara Marzocchi, Daniela Braconi, Michela Geminiani, Silvia Gambassi, Marcella Laschi, Bruno Frediani, Federico Galvagni, Maurizio Orlandini, Annalisa Santucci
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model
Fang Wang, Jeremy Travins, Zhizhong Lin, Yaguang Si, Yue Chen, Josh Powe, Stuart Murray, Dongwei Zhu, Erin Artin, Stefan Gross, Stephanie Santiago, Mya Steadman, Andrew Kernytsky, Kimberly Straley, Chenming Lu, Ana Pop, Eduard A. Struys, Erwin E. W. Jansen, Gajja S. Salomons, Muriel D. David, Cyril Quivoron, Virginie Penard-Lacronique, Karen S. Regan, Wei Liu, Lenny Dang, Hua Yang, Lee Silverman, Samuel Agresta, Marion Dorsch, Scott Biller, Katharine Yen, Yong Cang, Shin-San Michael Su, Shengfang Jin
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine
Natalia Gomez-Ospina, Anna I. Scott, Gia J. Oh, Donald Potter, Veena V. Goel, Lauren Destino, Nancy Baugh, Gregory M. Enns, Anna-Kaisa Niemi, Tina M. Cowan
Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study
Julia B. Hennermann, Seyfullah Gökce, Alexander Solyom, Eugen Mengel, Edward H. Schuchman, Calogera M. Simonaro
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome
Christian J. Hendriksz, Kenneth I. Berger, Rossella Parini, Moeenaldeen D. AlSayed, Julian Raiman, Roberto Giugliani, John J. Mitchell, Barbara K. Burton, Norberto Guelbert, Fiona Stewart, Derralynn A. Hughes, Robert Matousek, Elaina Jurecki, Celeste Decker, Paul R. Harmatz
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement
Konstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, Miriam Döcker, Saskia Biskup, Heidi Mayrhofer, Florian Battke, Gabriele du Bois, Klaus Harzer
Cholic acid therapy in Zellweger spectrum disorders
Kevin Berendse, Femke C. C. Klouwer, Bart G. P. Koot, Elles M. Kemper, Sacha Ferdinandusse, Kiran V. K. Koelfat, Martin Lenicek, Frank G. Schaap, Hans R. Waterham, Frédéric M. Vaz, Marc Engelen, Peter L. M. Jansen, Ronald J. A. Wanders, Bwee Tien Poll-The
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients
H. Rosewich, P. Dechent, C. Krause, A. Ohlenbusch, K. Brockmann, J. Gärtner
mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
Kara R. Vogel, Garrett R. Ainslie, K. Michael Gibson
Large soft-tissue masses in an adult patient with Gaucher disease
Neha Mahajan, Russell Brynes, Shoji Yano
Rapid resolution of infantile lipemia retinalis following exchange transfusion
Cara E. Capitena, Holly J. Wagoner, Christopher M. Ruzas, Tellen D. Bennett, Peter R. Baker II, Jennifer L. Jung, James D. Weisfeld-Adams