Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental problems.
Assmann B, Gohlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T
タイトル
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
