Metabolism

Our Division is committed to the diagnosis, therapy and clinical management of children with inborn errors of metabolism and other genetic diseases, including those affecting connective tissue and the skeletal system.

Our laboratory offers a wide range of biochemical and molecular diagnostic analyses including those for:

 Order form [84.5 KB]

• Disorders of Glycogen, Galactose, and Fructose metabolism
• Lysosomal Storage Diseases (Mucopolysaccharidoses, Oligosaccharidoses, Lipidoses, Spingolipidoses such as M. Fabry, M. Gaucher and others) in collaboration with Universitäts-Kinderklinik Münster

 Order form Gaucher, Fabry, MPS german [1952 KB]

 Order form Gaucher, Fabry, MPS french [523.1 KB]

• Disorders of Biotin- and Intracellular Vitamin B12 Metabolism including the Methylmalonic Acidurias 
• Urea Cycle Disorders
• Congenital Disorders of Glycosylation (CDG)
  

 Order form CDG [703.6 KB]

• Inherited Disorders of Connective Tissue (Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Marfan Syndrome (in collaboration with Institut für Medizinische Genetik, Schwerzenbach), and others)

We closely collaborate with the Division of Clinical Chemistry and Biochemistry in the coordination and interpretation of analysis for Amino Acid and Organic Acid Disorders performed at the Clinical Chemistry Laboratory of our Hospital.

Our Neonatal Screening Laboratory screens for inborn metabolic diseases in newborns.

For research projects see University of Zurich

Our adress / unsere Adresse:

Editorial Office of the European Journal of Pediatrics - Zurich Office

Beat Steinmann	Editor-in-Chief	beat.steinmannkispi.uzh.ch
David Nadal	Editor	david.nadalkispi.uzh.ch
Luciano Molinari	Statistical Adviser	luciano.molinarikispi.uzh.ch
Verena Maier	Managing Editor	ejpkispi.uzh.ch