Issue 3/2011
Content (33 Articles)
Protein structure reports in JIMD - an important enhancement of journal scope
Bernhard Rupp
Interactive JIMD articles using the iSee concept: turning a new page on structural biology data
Wen Hwa Lee, Wyatt W. Yue, Eugene Raush, Maxim Totrov, Ruben Abagyan, Udo Oppermann, Brian D. Marsden
Newborn screening: how are we travelling, and where should we be going?
Bridget Wilcken
High-throughput structural biology of metabolic enzymes and its impact on human diseases
Wyatt W. Yue, Udo Oppermann
On the future of “omics”: lipidomics
William J. Griffiths, Michael Ogundare, Christopher M. Williams, Yuqin Wang
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
Johannes M. F. G. Aerts, Wouter W. Kallemeijn, Wouter Wegdam, Maria Joao Ferraz, Marielle J. van Breemen, Nick Dekker, Gertjan Kramer, Ben J. Poorthuis, Johanna E. M. Groener, Josanne Cox-Brinkman, Saskia M. Rombach, Carla E. M. Hollak, Gabor E. Linthorst, Martin D. Witte, Henrik Gold, Gijs A. van der Marel, Herman S. Overkleeft, Rolf G. Boot
Dietary dilemmas in the management of glycogen storage disease type I
Kaustuv Bhattacharya
The use of continuous glucose monitoring in the practical management of glycogen storage disorders
Fiona J. White, Simon A. Jones
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy
Sarah Michelman Lo, Jun Liu, F. Chen, G. M. Pastores, J. Knowles, M. Boxer, Kirk Aleck, Pramod K. Mistry
Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: a systematic review
Marleen H. van der Linden, Moyo C. Kruyt, Ralph J. B. Sakkers, Tom J. de Koning, F. Cumhur Öner, René M. Castelein
Structural basis of fumarate hydratase deficiency
Sarah Picaud, Kathryn L. Kavanagh, Wyatt W. Yue, Wen Hwa Lee, Susanne Muller-Knapp, Opher Gileadi, James Sacchettini, Udo Oppermann
Diagnosis and management of glutaric aciduria type I – revised recommendations
Stefan Kölker, Ernst Christensen, James V. Leonard, Cheryl R. Greenberg, Avihu Boneh, Alberto B. Burlina, Alessandro P. Burlina, Marjorie Dixon, Marinus Duran, Angels García Cazorla, Stephen I. Goodman, David M. Koeller, Mårten Kyllerman, Chris Mühlhausen, Edith Müller, Jürgen G. Okun, Bridget Wilcken, Georg F. Hoffmann, Peter Burgard
Renal transplantation in a boy with methylmalonic acidaemia
Joanna Clare Clothier, Anupam Chakrapani, Mary-Anne Preece, Patrick McKiernan, Rajat Gupta, Anita Macdonald, Sally-Anne Hulton
Transition of young adults with phenylketonuria from pediatric to adult care
Ulrike Mütze, Annika Roth, Johannes F. W. Weigel, Skadi Beblo, Christoph G. Baerwald, Peter Bührdel, Wieland Kiess
Tackling frontal lobe–related functions in PKU through functional brain imaging: a Stroop task in adult patients
Benedikt Sundermann, Bettina Pfleiderer, Harald E. Möller, Wolfram Schwindt, Josef Weglage, Jöran Lepsien, Reinhold Feldmann
Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers
L. Ranganath, A. M. Taylor, A. Shenkin, W. D. Fraser, J. Jarvis, J. A. Gallagher, N. Sireau
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities
Rita Kretz, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Marianne Rohrbach, Ingrid Hausser, Alessandra Baumer, Matthias Baumgartner, Cecilia Giunta, Ariana Kariminejad, Johannes Häberle
Complex III staining in blue native polyacrylamide gels
Joél Smet, Boel De Paepe, Sara Seneca, Willy Lissens, Heike Kotarsky, Linda De Meirleir, Vineta Fellman, Rudy Van Coster
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points
Emma Glamuzina, Emma Fettes, Katie Bainbridge, Victoria Crook, Niamh Finnegan, Lara Abulhoul, Ashok Vellodi
The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome)
Elke Miebach, Heather Church, Alan Cooper, Jean Mercer, Karen Tylee, Robert F. Wynn, J. Edmond Wraith
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
Renzo Manara, Elena Priante, Marco Grimaldi, Lucia Santoro, Luca Astarita, Rita Barone, Daniela Concolino, Maja Di Rocco, Maria Alice Donati, Simona Fecarotta, Anna Ficcadenti, Agata Fiumara, Francesca Furlan, Irene Giovannini, Franco Lilliu, Rodica Mardari, Gabriele Polonara, Elena Procopio, Angelica Rampazzo, Andrea Rossi, Graziolina Sanna, Rossella Parini, Maurizio Scarpa
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?
Pilar Giraldo, Jose Luis Capablo, Pilar Alfonso, Beatriz Garcia-Rodriguez, Paz Latre, Pilar Irun, Alicia Saenz de Cabezon, Miguel Pocovi
Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele
Manisha Balwani, Marie E. Grace, Robert J. Desnick
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases
Xin Sheen Zhang, William Brondyk, John T. Lydon, Beth L. Thurberg, Peter A. Piepenhagen
Non-invasive measurements of atherosclerosis in adult cystinosis patients
Martine T. P. Besouw, Suzanne Holewijn, Elena N. Levtchenko, Mirian C. H. Janssen
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience
Thomas Opladen, Bettina Abu Seda, Anahita Rassi, Beat Thöny, Georg F. Hoffmann, Nenad Blau
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test
Sunita Bijarnia, Bridget Wilcken, Veronica C. Wiley
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases
Esmeralda Martins, M. Luis Cardoso, Esmeralda Rodrigues, Clara Barbot, Altina Ramos, Michael J. Bennett, Elisa Leão Teles, Laura Vilarinho
Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience
Thomas Opladen, Bettina Abu Seda, Anahita Rassi, Beat Thöny, Georg F. Hoffmann, Nenad Blau