Issue 2/2017
Content (16 Articles)
The galactosemia network (GalNet)
M. E. Rubio-Gozalbo, A. M. Bosch, A. Burlina, G. T. Berry, E. P. Treacy
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Lindsey Welling, Laurie E. Bernstein, Gerard T. Berry, Alberto B. Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S. Gubbels, Ina Knerr, Philippe Labrune, Johanna H. van der Lee, Anita MacDonald, Elaine Murphy, Pat A. Portnoi, Katrin Õunap, Nancy L. Potter, M. Estela Rubio-Gozalbo, Jessica B. Spencer, Inge Timmers, Eileen P. Treacy, Sandra C. Van Calcar, Susan E. Waisbren, Annet M. Bosch
Small molecules as therapeutic agents for inborn errors of metabolism
Leslie Matalonga, Laura Gort, Antonia Ribes
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
D. Marques-da-Silva, V. dos Reis Ferreira, M. Monticelli, P. Janeiro, P. A. Videira, P. Witters, J. Jaeken, D. Cassiman
Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease
Yuval E. Landau, Susan E. Waisbren, Lawrence M. A. Chan, Harvey L. Levy
Analysis of the functional muscle–bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography
Daniela Choukair, Carolin Kneppo, Reinhard Feneberg, Eckhard Schönau, Martin Lindner, Stefan Kölker, Georg F. Hoffmann, Burkhard Tönshoff
Multicompartment analysis of protein-restricted phenylketonuric mice reveals amino acid imbalances in brain
Kara R. Vogel, Erland Arning, Teodoro Bottiglieri, K. Michael Gibson
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin
Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study
S. Koene, J. Timmermans, G. Weijers, P. de Laat, C. L. de Korte, J. A. M. Smeitink, M. C. H. Janssen, L. Kapusta
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, David R. Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M. Sue, Shanti Balasubramaniam, John Christodoulou
Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience
Nathan J. Rodgers, Alexander M. Kaizer, Weston P. Miller, Kyle D. Rudser, Paul J. Orchard, Elizabeth A. Braunlin
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology
Mark J. Osborn, Beau R. Webber, Ronald T. McElmurry, Kyle D. Rudser, Anthony P. DeFeo, Michael Muradian, Anna Petryk, Benedikt Hallgrimsson, Bruce R. Blazar, Jakub Tolar, Elizabeth A. Braunlin
Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease
Young Joon Kwon, Marni J. Falk, Michael J. Bennett
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system
Patricie Burda, Terttu Suormala, Dorothea Heuberger, Alexandra Schäfer, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner