Ahornsirupkrankheit (MSUD)

Simon E, Schwarz M, Wendel U. Social outcome in adults with maple syrup urine disease (MSUD). J Inherit Metab Dis (2007)
Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. Domino liver transplantation in maple syrup urine disease. Liver Transpl (2006) 12:876-82.
le Roux C, Murphy E, Hallam P, Lilburn M, Orlowska D, Lee P. Neuropsychometric outcome predictors for adults with maple syrup urine disease. J Inherit Metab Dis (2006) 29:201-2.
Strauss KA , Mazariegos GV , Sindhi R , Squires R , Finegold DN , Vockley G , Robinson DL , Hendrickson C , Virji M , Cropcho L , Puffenberger EG , McGhee W , Seward LM , Morton DH . Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant (2006) 6:557-64.
le Roux C, Murphy E, Lilburn M, Lee PJ. The longest-surviving patient with classical maple syrup urine disease. J Inherit Metab Dis ( 2006) 29:190-4.
Hallam P, Lilburn M, Lee PJ. A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD). J Inherit Metab Dis (2005) 28:665-72.
Simon E, Wendel U, Schadewaldt P. Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany. Turk J Pediatr (2005) 47:8-13.
Schönberger S , Schweiger B, Schwahn B, Schwarz M, Wendel U. Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab (2004) 82:69-75.
Kleopa KA , Raizen DM , Friedrich CA , Brown MJ , Bird SJ. Muscle Nerve (2001) 24:284-7.

Arbeitsgemeinschaft für angeboreneStoffwechselstörungen in der Inneren Medizin