Pitz, S; Grube-Einwald, K; Reinke, J et al.
Optic nerve involvement in Fabry disease - a pilot studyINTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS. Bd. 48. 2010 S. S60-S60
Shemesh, T; Whybra, C; Delgado-Sanchez, S et al.
Paraoxonase (PON1) Gene Polymorphisms in Fabry Disease: Correlation with Renal DiseaseNEPHRON CLINICAL PRACTICE. Bd. 116. H. 4. 2010 S. C289-C293
Hermanns, P; Grasberger, H; Refetoff, S et al.
Pathogenic mechanism of three novel PAX8 mutations in patients with thyroid dysgenesis. 21.Jahrestagung Humangenetik, Hamburg 02.-04.03.2010MEDIZINISCHE GENETIK. Bd. 22. H. 1. 2010 S. 113
Biegstraaten, M; Mengel, E; Marodi, L et al.
Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational studyBRAIN. Bd. 133. 2010 S. 2909-2919
Hofer, D; Paul, K; Fantur, K et al.
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutationsCLINICAL GENETICS. Bd. 78. H. 3. 2010 S. 236-246
Biegstraaten, M; Mengel, E; Marodi, L et al.
Polyneuropathy in Type 1 Gaucher disease: A two-year, multinational, prospective observational studyMOLECULAR GENETICS AND METABOLISM. Bd. 99. H. 2. 2010 S. S10-S11
Namdar, M; Kampmann, C; Steffel, J et al.
PQ Interval in Patients With Fabry DiseaseAMERICAN JOURNAL OF CARDIOLOGY. Bd. 105. H. 5. 2010 S. 753-756
Pineda, M; Mengel, E; Wraith, JE et al.
PRELIMINARY DATA FROM AN INTERNATIONAL DISEASE REGISTRY FOR NIEMANN-PICK DISEASE TYPE CJOURNAL OF INHERITED METABOLIC DISEASE. Bd. 33. 2010 S. S146-S146
Zepp, F
Principles of vaccine design-Lessons from natureVACCINE. Bd. 28. 2010 S. C14-C24
Bockius, D; Jung, T; Neuhausen, P et al.
Proposal on an evaluation form for the standardized indication of physiotherapy and occupational therapy and scientific application in neonatology [Abstract]; Neuropediatrics;412010