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European Journal of Pediatrics

Ausgabe 3/2008

Inhalt (19 Artikel)

Review

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

Open Access Review

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

Original Paper

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

Original Paper

Ventilator assessment of respiratory mechanics in paediatric intensive care

Gopinathannair Harikumar, Anne Greenough, Gerrard F. Rafferty

Original Paper

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

Original Paper

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

Original Article

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

Original Paper

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

Original Paper

The predictive value of the pediatric symptom checklist in 5-year-old Austrian children

Leonhard Thun-Hohenstein, Stefanie Herzog

Original Paper

Mechanographic characteristics of adolescents and young adults with congenital heart disease

Oliver Fricke, Cordelia Witzel, Sabine Schickendantz, Narayanswami Sreeram, Konrad Brockmeier, Eckhard Schoenau

Short Report

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

Short Report

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

Short Report

Serial 1H-MRS in GM2 gangliosidoses

Mitra Assadi, Susan Baseman, Christopher Janson, Dah-Jyuu Wang, Larissa Bilaniuk, Paola Leone

Open Access Short Report

Moebius-Poland syndrome and hypogonadotropic hypogonadism

Diego López de Lara, Jaime Cruz-Rojo, Jaime Sánchez del Pozo, Maria Elena Gallego Gómez, Gregorio Lledó Valera

Short Report

TSH and endothelial function in children

Elena Gottardi, Flavio Egger, Giorgio Radetti

Abstracts

Abstracts

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