| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8261595 | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2012 | 13 Pages |
Abstract
⺠Largest cohort of Ã-ureidopropionase deficient patients studied so far. ⺠Patients presented mainly with neurological abnormalities. ⺠Analysis of UPB1 showed 7 novel mutations. ⺠Detailed analysis of purified wild-type and mutant Ã-ureidopropionase. ⺠Mutations affected catalysis, global folding and structural integrity.
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Authors
André B.P. van Kuilenburg, Doreen Dobritzsch, Judith Meijer, Michael Krumpel, Laila A. Selim, Mohamed S. Rashed, Birgit Assmann, Rutger Meinsma, Bernhard Lohkamp, Tetsuya Ito, Nico G.G.M. Abeling, Kayoko Saito, Kaoru Eto, Martin Smitka, Martin Engvall,