Ausgabe 5/2011
Inhalt (15 Artikel)
Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases
Ursula Matte, Valeska Lizzi Lagranha, Talita Giacomet de Carvalho, Fabiana Quoos Mayer, Roberto Giugliani
Gastrointestinal disturbances and their management in miglustat-treated patients
Nadia Belmatoug, Alberto Burlina, Pilar Giraldo, Chris J. Hendriksz, David J. Kuter, Eugen Mengel, Gregory M. Pastores
Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality
Kim M. Hemsley, John J. Hopwood
A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis
Lisa Imundo, Charles A. LeDuc, Saurav Guha, Marc Brown, Giorgio Perino, Lara Gushulak, Barbara Triggs-Raine, Wendy K. Chung
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment
Derk Frederik Matthaus Avenarius, John-Sigurd Svendsen, Dag Malm
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world
María Verónica Muñoz-Rojas, Luisa Bay, Luz Sanchez, Marcel van Kuijck, Sandra Ospina, Juan Francisco Cabello, Ana Maria Martins
Genistein supplementation in patients affected by Sanfilippo disease
Verónica Delgadillo, Maria del Mar O’Callaghan, Rafael Artuch, Raquel Montero, Mercedes Pineda
Burden of illness of Pompe disease in patients only receiving supportive care
Tim A. Kanters, Marloes L. C. Hagemans, Nadine A. M. E. van der Beek, Frans F. H. Rutten, Ans T. van der Ploeg, Leona Hakkaart
Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool
Elin Haf Davies, Eugen Mengel, Anna Tylki-Szymanska, G. Kleinotiene, Joerg Reinke, Ashok Vellodi
Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis
Kazuhiko Matsuoka, Daisuke Tsuji, Takao Taki, Kohji Itoh
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
Jeroen van den Bosch, Linda F. Oemardien, Malgorzata I. Srebniak, Monique Piraud, Jan G. M. Huijmans, Frans W. Verheijen, George J. G. Ruijter
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data
Jennifer Cialone, Erika F. Augustine, Nicole Newhouse, Heather Adams, Amy Vierhile, Frederick J. Marshall, Elisabeth A. de Blieck, Jennifer Kwon, Paul G. Rothberg, Jonathan W. Mink
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients
María-Socorro Pérez-Poyato, Montserrat Milà Recansens, Isidre Ferrer Abizanda, Raquel Montero Sánchez, Laia Rodríguez-Revenga, Victoria Cusí Sánchez, M. Mar García González, Rosario Domingo Jiménez, Rafael Camino León, Ramón Velázquez Fragua, Antonio Martínez-Bermejo, Mercè Pineda Marfà
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
Samuel Groeschel, Christiane Kehrer, Corinna Engel, Christine í Dali, Annette Bley, Robert Steinfeld, Wolfgang Grodd, Ingeborg Krägeloh-Mann