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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1992 | 1 |
1999 | 1 |
2001 | 1 |
2004 | 1 |
2007 | 1 |
2008 | 1 |
2022 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 51733
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β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Mol Genet Metab. 2022 Jul;136(3):177-185. doi: 10.1016/j.ymgme.2022.01.102. Epub 2022 Feb 1.
Mol Genet Metab. 2022.
PMID: 35151535
Free article.
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB.
Yaplito-Lee J, et al.
Mol Genet Metab. 2008 Feb;93(2):190-4. doi: 10.1016/j.ymgme.2007.09.009. Epub 2007 Oct 26.
Mol Genet Metab. 2008.
PMID: 17964839
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beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH.
van Kuilenburg AB, et al.
Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22.
Hum Mol Genet. 2004.
PMID: 15385443
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Expression and properties of human liver beta-ureidopropionase.
Sakamoto T, Sakata SF, Matsuda K, Horikawa Y, Tamaki N.
Sakamoto T, et al.
J Nutr Sci Vitaminol (Tokyo). 2001 Apr;47(2):132-8. doi: 10.3177/jnsv.47.132.
J Nutr Sci Vitaminol (Tokyo). 2001.
PMID: 11508704
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cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase.
Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Göhlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH.
Vreken P, et al.
Biochim Biophys Acta. 1999 Oct 28;1447(2-3):251-7. doi: 10.1016/s0167-4781(99)00182-7.
Biochim Biophys Acta. 1999.
PMID: 10542323
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beta-Alanine synthase: purification and allosteric properties.
Matthews MM, Liao W, Kvalnes-Krick KL, Traut TW.
Matthews MM, et al.
Arch Biochem Biophys. 1992 Mar;293(2):254-63. doi: 10.1016/0003-9861(92)90393-b.
Arch Biochem Biophys. 1992.
PMID: 1536562
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