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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 6/2010

Ausgabe 6/2010

Inhaltsverzeichnis ( 25 Artikel )

01.12.2010 | SSIEM Column | Ausgabe 6/2010 Open Access

SSIEM reflections 2004–2010: the growing stature of our society

Cornelis Jakobs

01.12.2010 | Editorial | Ausgabe 6/2010

Advances and challenges in phenylketonuria

Cary O. Harding, Nenad Blau

01.12.2010 | Review | Ausgabe 6/2010

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

01.12.2010 | Advances and Challenges in PKU | Ausgabe 6/2010

Nutritional issues in treating phenylketonuria

François Feillet, Carlo Agostoni

01.12.2010 | Advances and Challenges in PKU | Ausgabe 6/2010

The reality of dietary compliance in the management of phenylketonuria

Anita MacDonald, Hulya Gokmen-Ozel, Margreet van Rijn, Peter Burgard

01.12.2010 | Advances and Challenges in PKU | Ausgabe 6/2010 Open Access

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

01.12.2010 | Advances and Challenges in PKU | Ausgabe 6/2010

Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle

Beat Thöny

01.12.2010 | Advances and Challenges in PKU | Ausgabe 6/2010

Therapeutic liver repopulation for phenylketonuria

Cary O. Harding, K. M. Gibson

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Original Article | Ausgabe 6/2010

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance

Erin M. Coffee, Dean R. Tolan

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Original Article | Ausgabe 6/2010

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

Anupam Chakrapani, Ashok Vellodi, Peter Robinson, Simon Jones, J. E. Wraith

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Original Article | Ausgabe 6/2010 Open Access

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

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Original Article | Ausgabe 6/2010

Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis

Poonam Sansanwal, Li Li, Szu-Chuan Hsieh, Minnie M. Sarwal

01.12.2010 | Original Article | Ausgabe 6/2010 Open Access

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

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Original Article | Ausgabe 6/2010

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

01.12.2010 | Erratum | Ausgabe 6/2010

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

01.12.2010 | Erratum | Ausgabe 6/2010

Erratum to: Abstract 332-P

A NEW INFANT PKU PROTEIN SUBSTITUTE WITH PREBIOTICS: IMPACT ON GASTRO-INTESTINAL MICROFLORA
Anita MacDonald, Barbara Cochrane, Nik Loveridge

01.12.2010 | Erratum | Ausgabe 6/2010

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

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