Issue 3/2008
Content (19 Articles)
What’s new in metabolic and genetic hypoglycaemias: diagnosis and management
Vassili Valayannopoulos, Stéphane Romano, Karine Mention, Anne Vassault, Daniel Rabier, Michel Polak, Jean-Jacques Robert, Yves de Keyzer, Pascale de Lonlay
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
J. Edmond Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meirleir, Nathalie Guffon, Allan Meldgaard Lund, Gunilla Malm, Ans T. Van der Ploeg, Jiri Zeman
Is Familial Mediterranean Fever a thrombotic disease or not?
Atalay Demirel, Tiraje Celkan, Ozgur Kasapcopur, Hulya Bilgen, Alp Ozkan, Hilmi Apak, Nil Arısoy, Inci Yıldız
Ventilator assessment of respiratory mechanics in paediatric intensive care
Gopinathannair Harikumar, Anne Greenough, Gerrard F. Rafferty
Steep increase of incidence of childhood diabetes since 1999 in Austria. Time trend analysis 1979–2005. A nationwide study
Edith Schober, Birgit Rami, Thomas Waldhoer
Nanoduct® sweat testing for rapid diagnosis in newborns, infants and children with cystic fibrosis
Marie-Claire Desax, Roland A. Ammann, Jürg Hammer, Martin H. Schoeni, Jürg Barben
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder
James Vivian Leonard, Martin Peter Ward Platt, Andrew Alan Myles Morris
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period
Andrea Zingg-Schenk, Justine Bacchetta, Pierre Corvol, Annie Michaud, Thomas Stallmach, Pierre Cochat, Olivier Gribouval, Marie-Claire Gubler, Thomas J. Neuhaus
Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two other genes; evidence of intact dendritic cell development and TLR responses
Harumi Jyonouchi, Lee Geng, Gökçe A. Törüner, Kavita Vinekar, Di Feng, Patricia Fitzgerald-Bocarsly
The predictive value of the pediatric symptom checklist in 5-year-old Austrian children
Leonhard Thun-Hohenstein, Stefanie Herzog
Mechanographic characteristics of adolescents and young adults with congenital heart disease
Oliver Fricke, Cordelia Witzel, Sabine Schickendantz, Narayanswami Sreeram, Konrad Brockmeier, Eckhard Schoenau
An estimation of indirect costs caused by acute rotavirus gastroenteritis in a Galician area, Spain
Federico Martinón-Torres, Marta Bouzón-Alejandro, Maria López-Sousa, Lorenzo Redondo-Collazo, Santiago Almeida-Agudín, Consuelo Astorgano-Fernández, José María Martinón-Sánchez
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature
Shelagh K. Joss, Sam Ghazawy, Susan Tomkins, Mushtaq Ahmed, John Bradbury, Eamonn Sheridan
Serial 1H-MRS in GM2 gangliosidoses
Mitra Assadi, Susan Baseman, Christopher Janson, Dah-Jyuu Wang, Larissa Bilaniuk, Paola Leone
Moebius-Poland syndrome and hypogonadotropic hypogonadism
Diego López de Lara, Jaime Cruz-Rojo, Jaime Sánchez del Pozo, Maria Elena Gallego Gómez, Gregorio Lledó Valera
Arginine-vasopressin as a rescue therapy in children and neonates for catecholamine-resistant shock
Sascha Meyer, Sven Gottschling, Ludwig Gortner