Ausgabe 3/2013
Inhalt (18 Artikel)
Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism
Kara R. Vogel, Phillip L. Pearl, William H. Theodore, Robert C. McCarter, Cornelis Jakobs, K. Michael Gibson
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases
F. Lamari, F. Mochel, F. Sedel, J. M. Saudubray
Metabolite proofreading, a neglected aspect of intermediary metabolism
Emile Van Schaftingen, Rim Rzem, Alexandre Marbaix, François Collard, Maria Veiga-da-Cunha, Carole L. Linster
Blood–brain barrier structure and function and the challenges for CNS drug delivery
N. Joan Abbott
An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain
Roscoe O. Brady, Chunzhang Yang, Zhengping Zhuang
The CXCL12/CXCR4/CXCR7 ligand-receptor system regulates neuro-glio-vascular interactions and vessel growth during human brain development
Daniela Virgintino, Mariella Errede, Marco Rizzi, Francesco Girolamo, Maurizio Strippoli, Thomas Wälchli, David Robertson, Karl Frei, Luisa Roncali
Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor
Jason Papademetriou, Carmen Garnacho, Daniel Serrano, Tridib Bhowmick, Edward H. Schuchman, Silvia Muro
Expression of the Nrf2-system at the blood-CSF barrier is modulated by neonatal inflammation and hypoxia-ischemia
Barbara D’Angelo, C. Joakim Ek, Mats Sandberg, Carina Mallard
Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability
Charles C. Pontikis, Cristin D. Davidson, Steven U. Walkley, Frances M. Platt, David J. Begley
Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits
Guilherme Baldo, David F. Wozniak, Kevin K. Ohlemiller, Yanming Zhang, Roberto Giugliani, Katherine P. Ponder
Non-physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAH ENU2 mice
Kara R. Vogel, Erland Arning, Brandi L. Wasek, Teodoro Bottiglieri, K. Michael Gibson
Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters
Nikolas Boy, Gisela Haege, Jana Heringer, Birgit Assmann, Chris Mühlhausen, Regina Ensenauer, Esther M. Maier, Thomas Lücke, Georg F. Hoffmann, Edith Müller, Peter Burgard, Stefan Kölker
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
Belén Pérez, Celia Medrano, Maria Jesus Ecay, Pedro Ruiz-Sala, Mercedes Martínez-Pardo, Magdalena Ugarte, Celia Pérez-Cerdá
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment
Neal J. Weinreb, Jack Goldblatt, Jacobo Villalobos, Joel Charrow, J. Alexander Cole, Marcelo Kerstenetzky, Stephan vom Dahl, Carla Hollak
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study
Anca Zimmermann, Paula Grigorescu-Sido, Heidi Rossmann, Karl J. Lackner, Cristina Drugan, Camelia Al Khzouz, Simona Bucerzan, Ioana Naşcu, Tim Zimmermann, Daniel Leucuţa, Matthias M. Weber
Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment
Yoshitaka Seki, Tatsuki Mizuochi, Akihiko Kimura, Tomoyuki Takahashi, Akira Ohtake, Shin-Ichi Hayashi, Toshiya Morimura, Yasuharu Ohno, Takayuki Hoshina, Kenji Ihara, Hajime Takei, Hiroshi Nittono, Takao Kurosawa, Keiko Homma, Tomonobu Hasegawa, Toyojiro Matsuishi
Greater risk of parkinsonism associated with non-N370S GBA1 mutations
M. J. Barrett, P. Giraldo, J. L. Capablo, P. Alfonso, P. Irun, B. Garcia-Rodriguez, M. Pocovi, G. M. Pastores