Ausgabe 6/2010
Inhalt (25 Artikel)
SSIEM reflections 2004–2010: the growing stature of our society
Cornelis Jakobs
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
Ania C. Muntau, Søren W. Gersting
Nutritional issues in treating phenylketonuria
François Feillet, Carlo Agostoni
The reality of dietary compliance in the management of phenylketonuria
Anita MacDonald, Hulya Gokmen-Ozel, Margreet van Rijn, Peter Burgard
Large neutral amino acids in the treatment of PKU: from theory to practice
Francjan J. van Spronsen, Martijn J. de Groot, Marieke Hoeksma, Dirk-Jan Reijngoud, Margreet van Rijn
Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle
Beat Thöny
Therapeutic liver repopulation for phenylketonuria
Cary O. Harding, K. M. Gibson
BH4 therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up
Rani H. Singh, Meghan E. Quirk, Teresa D. Douglas, Mary C. Brauchla
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values
Thomas Opladen, Jürgen G. Okun, Peter Burgard, Nenad Blau, Georg F. Hoffmann
S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes
Randall Grubbs, Oliver Vugrek, Jeremy Deisch, Conrad Wagner, Sally Stabler, Robert Allen, Ivo Barić, Marko Rados, S. Harvey Mudd
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance
Erin M. Coffee, Dean R. Tolan
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
Bruno Bembi, Federica Edith Pisa, Marco Confalonieri, Giovanni Ciana, Agata Fiumara, Rossella Parini, Miriam Rigoldi, Arrigo Moglia, Alfredo Costa, Annalisa Carlucci, Cesare Danesino, Maria Gabriela Pittis, Andrea Dardis, Sabrina Ravaglia
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response
Sabrina Ravaglia, Anna Pichiecchio, Michela Ponzio, Cesare Danesino, Kolsoum Saeidi Garaghani, Guy Umberto Poloni, Antonio Toscano, Arrigo Moglia, Annalisa Carlucci, Paola Bini, Mauro Ceroni, Stefano Bastianello
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
Anupam Chakrapani, Ashok Vellodi, Peter Robinson, Simon Jones, J. E. Wraith
CRIM-negative infantile Pompe disease: 42-month treatment outcome
Marianne Rohrbach, Andrea Klein, Alice Köhli-Wiesner, Dorothe Veraguth, Ianina Scheer, Christian Balmer, Roger Lauener, Matthias R. Baumgartner
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
Marlies J. Valstar, Hennie T. Bruggenwirth, Renske Olmer, Ron A. Wevers, Frans W. Verheijen, Ben J. Poorthuis, Dicky J. Halley, Frits A. Wijburg
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy
Philip Stein, Advitya Malhotra, Andrew Haims, Gregory M. Pastores, Pramod K. Mistry
Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis
Poonam Sansanwal, Li Li, Szu-Chuan Hsieh, Minnie M. Sarwal
Neurocognitive functioning in school-aged cystinosis patients
M. T. P. Besouw, G. M. Hulstijn-Dirkmaat, R. E. A. van der Rijken, E. A. M. Cornelissen, C. M. van Dael, J. Vande Walle, M. R. Lilien, E. N. Levtchenko
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
Belén Pérez-Dueñas, Claudio Toma, Aida Ormazábal, Jordi Muchart, Francesc Sanmartí, Georgina Bombau, Mercedes Serrano, Angels García-Cazorla, Bru Cormand, Rafael Artuch
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
Elisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, Aida Ormazábal, Raquel Montero, Edvige Veneselli, Mercè Pineda, Verónica González, Francesc Sanmartí, Carmen Fons, Anna Sans, Bru Cormand, Luis Puelles, Antonia Alonso, Jaime Campistol, Rafael Artuch, Angels García-Cazorla
Erratum to: Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values
Thomas Opladen, Jürgen G. Okun, Peter Burgard, Nenad Blau, Georg F. Hoffmann
Erratum to: Congenital toxoplasmosis—a report on the Danish neonatal screening programme 1999–2007
Dennis Röser, Henrik Vedel Nielsen, Eskild Petersen, Peter Saugmann-Jensen, Bent Nørgaard-Pedersen