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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 6/2014

Ausgabe 6/2014

Inhaltsverzeichnis ( 17 Artikel )

01.11.2014 | Review | Ausgabe 6/2014

A systematic review of bone mineral density and fractures in phenylketonuria

Karen E. Hansen, Denise Ney

01.11.2014 | Original Article | Ausgabe 6/2014

Expanded newborn screening in New South Wales: missed cases

Jane Estrella, Bridget Wilcken, Kevin Carpenter, Kaustuv Bhattacharya, Michel Tchan, Veronica Wiley

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

Long term differential consequences of miglustat therapy on intestinal disaccharidases

Mahdi Amiri, Hassan Y. Naim

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014 Open Access

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, STRIVE Investigators

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Original Article | Ausgabe 6/2014

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

01.11.2014 | Erratum | Ausgabe 6/2014

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

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