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Items: 1 to 20 of 104

1.

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB.

J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y. Epub 2014 Feb 14. Erratum in: J Inherit Metab Dis. 2014 Nov;37(6):1023.

2.

Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.

Shu J, Lv X, Jiang S, Zhang Y, Zhang C, Meng Y, Situ A, Xu H, Song L.

Childs Nerv Syst. 2014 Dec;30(12):2109-14. doi: 10.1007/s00381-014-2541-1. Epub 2014 Sep 19.

PMID:
25236466
3.

Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing.

Meijer J, Nakajima Y, Zhang C, Meinsma R, Ito T, Van Kuilenburg AB.

Nucleosides Nucleotides Nucleic Acids. 2013;32(12):639-45. doi: 10.1080/15257770.2013.847189.

PMID:
24328561
4.

NMR-based urinalysis for rapid diagnosis of β-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.

Clin Chim Acta. 2015 Feb 2;440:201-4. doi: 10.1016/j.cca.2014.10.030. Epub 2014 Oct 25.

PMID:
25445412
5.

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC.

Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi: 10.1016/j.bbadis.2012.04.001. Epub 2012 Apr 14.

6.

A Japanese case of β-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.

Brain Dev. 2017 Jan;39(1):58-61. doi: 10.1016/j.braindev.2016.08.001. Epub 2016 Aug 21.

PMID:
27553092
7.

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.

Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22.

PMID:
15385443
8.

[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].

Shu J, Lin S, Meng Y, Zhang C, Xu H, Zhang Y, Huang J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):647-50. doi: 10.3760/cma.j.issn.1003-9406.2015.05.008. Chinese.

PMID:
26418983
9.

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.

Mol Genet Metab. 2008 Feb;93(2):190-4. Epub 2007 Oct 26.

PMID:
17964839
10.

Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.

van Kuilenburg AB, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH.

Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8.

PMID:
17065070
11.

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y.

Am J Hum Genet. 1998 Sep;63(3):717-26.

12.

Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.

Ohse M, Matsuo M, Ishida A, Kuhara T.

J Mass Spectrom. 2002 Sep;37(9):954-62.

PMID:
12271438
13.

A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

Lee JH, van Kuilenburg AB, Abeling NG, Vasta V, Hahn SH.

JIMD Rep. 2015;19:117-21. doi: 10.1007/8904_2014_379. Epub 2015 Feb 1.

14.

Mutations in BTD causing biotinidase deficiency.

Hymes J, Stanley CM, Wolf B.

Hum Mutat. 2001 Nov;18(5):375-81. Review.

PMID:
11668630
15.

Publisher's note. Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing.

Meijer J, Nakajima Y, Zhang C, Meinsma R, Ito T, Van Kuilenburg AB.

Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):639-45. doi: 10.1080/15257770.2014.913907.

PMID:
24940676
16.

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC.

Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1.

17.

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N.

Gene. 2014 Jan 25;534(2):144-54. doi: 10.1016/j.gene.2013.11.003. Epub 2013 Nov 16.

PMID:
24252386
18.

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM.

Mol Genet Metab. 2007 Jun;91(2):157-64. Epub 2007 Mar 26.

PMID:
17383919
19.

The molecular basis of aminoacylase 1 deficiency.

Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO.

Biochim Biophys Acta. 2011 Jun;1812(6):685-90. doi: 10.1016/j.bbadis.2011.03.005. Epub 2011 Mar 23.

20.

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E.

Mol Genet Metab. 2008 Aug;94(4):435-42. doi: 10.1016/j.ymgme.2008.04.013. Epub 2008 Jun 3.

PMID:
18524658

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