Ausgabe 6/2014
Inhalt (17 Artikel)
A systematic review of bone mineral density and fractures in phenylketonuria
Karen E. Hansen, Denise Ney
Expanded newborn screening in New South Wales: missed cases
Jane Estrella, Bridget Wilcken, Kevin Carpenter, Kaustuv Bhattacharya, Michel Tchan, Veronica Wiley
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases
Sowmiya Moorthie, Louise Cameron, Gurdeep S. Sagoo, Jim R. Bonham, Hilary Burton
A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut 0 methylmalonic acidemia
Hilary J. Vernon, C. John Sperati, Joshua D. King, Andrea Poretti, Neil R. Miller, Jennifer L. Sloan, Andrew M. Cameron, Donna Myers, Charles P. Venditti, David Valle
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses
Angel L. Pey, Maristella Maggi, Giovanna Valentini
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants
Kira-Lee Koster, Marga Sturm, Diran Herebian, Sander H. J. Smits, Ute Spiekerkoetter
Long term differential consequences of miglustat therapy on intestinal disaccharidases
Mahdi Amiri, Hassan Y. Naim
The NCS-LSD cohort study: a description of the methods and analyses used to assess the long-term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with lysosomal storage disorders
W. E. Henley, L. J. Anderson, K. M. Wyatt, V. Nikolaou, R. Anderson, S. Logan
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study
L. J. Anderson, W. Henley, K. M. Wyatt, V. Nikolaou, S. Waldek, D. A. Hughes, R. H. Lachmann, S. Logan
Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study
L. J. Anderson, W. Henley, K. M. Wyatt, V. Nikolaou, D. A. Hughes, S. Waldek, S. Logan
Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study
L. J. Anderson, W. Henley, K. M. Wyatt, V. Nikolaou, S. Waldek, D. A. Hughes, G. M. Pastores, S. Logan
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study
L. J. Anderson, K. M. Wyatt, W. Henley, V. Nikolaou, S. Waldek, D. A. Hughes, G. M. Pastores, S. Logan
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
Christian J. Hendriksz, Barbara Burton, Thomas R. Fleming, Paul Harmatz, Derralynn Hughes, Simon A. Jones, Shuan-Pei Lin, Eugen Mengel, Maurizio Scarpa, Vassili Valayannopoulos, Roberto Giugliani, Peter Slasor, Debra Lounsbury, Wolfgang Dummer
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy
L. van Dussen, E. J. Hendriks, J. E. M. Groener, R. G. Boot, C. E. M. Hollak, J. M. F. G. Aerts
Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned
L. van Dussen, E. M. Akkerman, C. E. M. Hollak, A. J. Nederveen, M. Maas
Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease
Jean-Michel Itier, Gwénaëlle Ret, Sandra Viale, Lindsay Sweet, Dinesh Bangari, Anne Caron, Françoise Le-Gall, Bernard Bénichou, John Leonard, Jean-François Deleuze, Cécile Orsini
Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation
Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Rutger Meinsma, Nico G. G. M. Abeling, Jeroen Roelofsen, Lida Zoetekouw, Yoriko Watanabe, Kyoko Tashiro, Tomoko Lee, Yasuhiro Takeshima, Hiroshi Mitsubuchi, Akira Yoneyama, Kazuhide Ohta, Kaoru Eto, Kayoko Saito, Tomiko Kuhara, André B. P. van Kuilenburg