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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 3/2013

Ausgabe 3/2013

Inhaltsverzeichnis ( 18 Artikel )

01.05.2013 | Review | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

Metabolite proofreading, a neglected aspect of intermediary metabolism

Emile Van Schaftingen, Rim Rzem, Alexandre Marbaix, François Collard, Maria Veiga-da-Cunha, Carole L. Linster

01.05.2013 | EDITORIAL | Ausgabe 3/2013

The blood-brain barrier friend or foe?

Maurizio Scarpa, David Begley

01.05.2013 | Review | Ausgabe 3/2013

Blood–brain barrier structure and function and the challenges for CNS drug delivery

N. Joan Abbott

01.05.2013 | Original Article | Ausgabe 3/2013

An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain

Roscoe O. Brady, Chunzhang Yang, Zhengping Zhuang

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013 Open Access

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

01.05.2013 | Original Article | Ausgabe 3/2013

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

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