Ausgeprägte Bandkeratopathie bei Refsum-Syndrom

Demenz und Depression bei Patienten mit idiopathischem Parkinson-Syndrom

Erworbenes von-Willebrand-Syndrom als unerwÃ1⁄4nschte? Arzneimittelwirkung der Therapie mit Valproinsäure bei Kindern ist selten

Acquired von Willebrand syndrome as side effect of valproic acid therapy in children is rare W. Eberl1; U. Budde2; K. Bentele3; H.-J. Christen4; R. Knapp1; A. Mey1; R. Schneppenheim4 1Department of Paediatrics and Coagulation Laboratory, Klinikum Braunschweig gGmbH; 2Coagulation Laboratory, AescuLabor Hamburg; 3Department of General Paediatrics, University Medical Center Hamburg-Eppendorf; 4Chi...

Ansprechen auf DDAVP bei Kindern mit von-Willebrand-Syndrom vom Typ 2

We have prospectively evaluated the biologic response to desmopressin (DDAVP) in 28 children with type 2 von Willebrand disease (VWD) in correlation with the phenotype and the molecular defect of VWF. The diagnosis of VWD type 2 was mainly based on VWF functional parameters and/or an aberrant VWF multimer pattern. Seventeen different mutations were identified (6 of them novel). No response with...

Rachel Carson Syndrom

For years some ecologists have been convinced that pesticides are contributing to a decline in amphibian species around the globe. From an apparent epidemic of deformed frogs in Minnesota to the near disappearance of yellow-legged frogs from California’s Sierra Nevada Mountains, pesticides have been considered prime suspects. This suspicion is no doubt rooted in the belief by the ecological com...

Infantile Refsum disease.

Disorders attributable to peroxisomal dysfunction are well recognized on the basis of their clinical and biochemical characteristics. These observations have resulted in a preliminary classification that recognizes two major groups of disorders, both of which are genetically determined. Group 1 consists of the generalized peroxisomal disorders that frequently cause signs and symptoms in the new...