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Year Number of Results
2000 1
2001 2
2002 2
2004 1
2006 3
2007 2
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2009 1
2013 1
2014 4
2015 3
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2018 1
2019 1
2022 4
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Page 1
beta-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Dobritzsch D, Meijer J, Meinsma R, Maurer D, Monavari AA, Gummesson A, Reims A, Cayuela JA, Kuklina N, Benoist JF, Perrin L, Assmann B, Hoffmann GF, Bierau J, Kaindl AM, van Kuilenburg ABP. Dobritzsch D, et al. 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.
To date, only a limited number of genetically confirmed patients with a complete beta-ureidopropionase deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 10 newly identified beta-ureidopropionase deficient in …
To date, only a limited number of genetically confirmed patients with a complete beta-ureidopropionase deficiency have …
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Righetti S, Allcock RJN, Yaplito-Lee J, Adams L, Ellaway C, Jones KJ, Selvanathan A, Fletcher J, Pitt J, van Kuilenburg ABP, Delatycki MB, Laing NG, Kirk EP. Righetti S, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):62-67. doi: 10.1016/j.ymgme.2022.07.011. Epub 2022 Jul 25. Mol Genet Metab. 2022. PMID: 35926322
BACKGROUND: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various neurodevelopmental phenotypes including intellectual disability, seizures and autism. ...Caution should be used in ascribing clinical signi …
BACKGROUND: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various …
Case Report: A Case of beta-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant.
Shu J, Zhi X, Chen J, Lei M, Zheng J, Sheng W, Zhang C, Li D, Cai C. Shu J, et al. Front Pediatr. 2022 Feb 21;10:838341. doi: 10.3389/fped.2022.838341. eCollection 2022. Front Pediatr. 2022. PMID: 35265567 Free PMC article.
BACKGROUND: beta-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation. ...The level of heterogeneity was 65% in the patient and 17.8% in his mother. Eventually, the final diagnosis of beta- …
BACKGROUND: beta-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidin …
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
beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. ...Thus, a beta-ureidopropionase deficiency might not b …
beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N- …
A Japanese case of beta-ureidopropionase deficiency with dysmorphic features.
Akiyama T, Shibata T, Yoshinaga H, Kuhara T, Nakajima Y, Kato T, Maeda Y, Ohse M, Oka M, Kageyama M, Kobayashi K. Akiyama T, et al. Brain Dev. 2017 Jan;39(1):58-61. doi: 10.1016/j.braindev.2016.08.001. Epub 2016 Aug 21. Brain Dev. 2017. PMID: 27553092
beta-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation, and it is caused by a mutation in the UPB1 gene. ...Genetic testing of the UPB1 gene confirmed compound heterozygosity of a novel mutatio …
beta-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradatio …
NMR-based urinalysis for rapid diagnosis of beta-ureidopropionase deficiency in a patient with Dravet syndrome.
Lam CW, Law CY, Leung KF, Lai CK, Pak-lam Chen S, Chan B, Chan KY, Yuen YP, Mak CM, Yan-wo Chan A. Lam CW, et al. Clin Chim Acta. 2015 Feb 2;440:201-4. doi: 10.1016/j.cca.2014.10.030. Epub 2014 Oct 25. Clin Chim Acta. 2015. PMID: 25445412
BACKGROUND: Beta-ureidopropionase deficiency is a rare inborn error of metabolism (IEM) affecting pyrimidine metabolism. ...The detection of urine beta-ureidoisobutyric and beta-ureidopropionic acids using NMR or GC-MS is helpful in laboratory diagnosis of …
BACKGROUND: Beta-ureidopropionase deficiency is a rare inborn error of metabolism (IEM) affecting pyrimidine metabolism …
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
Beta-ureidopropionase deficiency (McKusick 606673) is an autosomal recessive condition caused by mutations in the UPB1 gene. ...Long-term follow-up is required to determine the clinical significance of the beta-ureidopropionase deficiency …
Beta-ureidopropionase deficiency (McKusick 606673) is an autosomal recessive condition caused by mutations in the UPB1 …
A Korean Case of beta-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
Lee JH, van Kuilenburg AB, Abeling NG, Vasta V, Hahn SH. Lee JH, et al. JIMD Rep. 2015;19:117-21. doi: 10.1007/8904_2014_379. Epub 2015 Feb 1. JIMD Rep. 2015. PMID: 25638458 Free PMC article.
beta-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutations in the UPB1 gene, which encodes the third enzyme involved in the pyrimidine degradation pathway. ...She was homozygous for p.R326Q (c.977 …
beta-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutatio …
27 results