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Journal of Inherited Metabolic Disease

Ausgabe 6/2016

Inhalt (16 Artikel)

Highlights

News and views

Sander M. Houten

Highlights

News and views

Peter Witters

Review

Immunological aspects of congenital disorders of glycosylation (CDG): a review

Maria Monticelli, Tiago Ferro, Jaak Jaeken, Vanessa dos Reis Ferreira, Paula A. Videira

SSIEM 2015

Differential diagnosis of lipoic acid synthesis defects

Frederic Tort, Xènia Ferrer-Cortes, Antonia Ribes

Rapid Communication

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

Original Article

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

Open Access Original Article

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

Original Article

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

Original Article

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

Open Access Original Article

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

Open Access Original Article

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

Open Access Original Article

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

Original Article

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

Images in Metabolic Medicine

Large soft-tissue masses in an adult patient with Gaucher disease

Neha Mahajan, Russell Brynes, Shoji Yano

Images in Metabolic Medicine

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

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