Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation. Kunte H, Trendelenburg G, Matzen J, Ventz M, Kornak U, Harms L. Case Reports 2010; 31(3): 301-303 PubMed PMID: 20588230 Keywords: Adrenal Insufficiency:complications, Adult, Atrophy:complications, Esophageal Achalasia:complications, Heterozygote, Humans, Lacrimal Apparatus Diseases:complications, Male, Mutation, Nerve Tissue Proteins:genetics, Nuclear Pore Complex Proteins:genetics,. Citation : A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. ..... Read abstract Full text PDF
Endocrinological and genetic studies in patients with Polycystic Ovary Syndrome (PCOS). Ghanaati Z, Peters H, Müller S, Ventz M, Pfüller B, Enchshargal Z, Rohde W, Dörner G. Journal Article 1999; 20(5): 323-327 PubMed PMID: 11460095 Citation : Our studies involved 21 women of Caucasian descent with PCOS, as diagnosed by ultrasound, clinical and hormonal findings. We determined ..... Read abstract Full text PDF