Engelke UF - Search Results

1

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM. O'Byrne JJ, et al. Among authors: engelke uf. Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15. Mol Genet Metab. 2018. PMID: 29331171 Free PMC article.

2

Structural and functional analysis of ypt2, an essential ras-related gene in the fission yeast Schizosaccharomyces pombe encoding a Sec4 protein homologue.

Haubruck H, Engelke U, Mertins P, Gallwitz D. Haubruck H, et al. EMBO J. 1990 Jun;9(6):1957-62. doi: 10.1002/j.1460-2075.1990.tb08323.x. EMBO J. 1990. PMID: 2112089 Free PMC article.

3

Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.

Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM, Heerschap A, de Jong JG, Binzak BA, Vockley J, Wevers RA. Moolenaar SH, et al. Among authors: engelke uf. Clin Chem. 1999 Apr;45(4):459-64. Clin Chem. 1999. PMID: 10102904

4

1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.

Wevers RA, Engelke UF, Moolenaar SH, Bräutigam C, de Jong JG, Duran R, de Abreu RA, van Gennip AH. Wevers RA, et al. Among authors: engelke uf. Clin Chem. 1999 Apr;45(4):539-48. Clin Chem. 1999. PMID: 10102915

5

Leukoencephalopathy associated with a disturbance in the metabolism of polyols.

van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. van der Knaap MS, et al. Among authors: engelke uf. Ann Neurol. 1999 Dec;46(6):925-8. doi: 10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j. Ann Neurol. 1999. PMID: 10589548

6

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.

Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J. Binzak BA, et al. Among authors: engelke uf. Am J Hum Genet. 2001 Apr;68(4):839-47. doi: 10.1086/319520. Epub 2001 Feb 28. Am J Hum Genet. 2001. PMID: 11231903 Free PMC article.

7

Hypoxia in fetal lambs: a study with (1)H-MNR spectroscopy of cerebrospinal fluid.

van Cappellen van Walsum AM, Jongsma HW, Wevers RA, Nijhuis JG, Crevels J, Engelke UF, Moolenaar SH, Oeseburg B, Nijland R. van Cappellen van Walsum AM, et al. Among authors: engelke uf. Pediatr Res. 2001 May;49(5):698-704. doi: 10.1203/00006450-200105000-00015. Pediatr Res. 2001. PMID: 11328955

8

In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.

Moolenaar SH, van der Knaap MS, Engelke UF, Pouwels PJ, Janssen-Zijlstra FS, Verhoeven NM, Jakobs C, Wevers RA. Moolenaar SH, et al. Among authors: engelke uf. NMR Biomed. 2001 May;14(3):167-76. doi: 10.1002/nbm.690. NMR Biomed. 2001. PMID: 11357181

9

beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.

Moolenaar SH, Göhlich-Ratmann G, Engelke UF, Spraul M, Humpfer E, Dvortsak P, Voit T, Hoffmann GF, Bräutigam C, van Kuilenburg AB, van Gennip A, Vreken P, Wevers RA. Moolenaar SH, et al. Among authors: engelke uf. Magn Reson Med. 2001 Nov;46(5):1014-7. doi: 10.1002/mrm.1289. Magn Reson Med. 2001. PMID: 11675655 Free article.

10

Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine.

Moolenaar SH, Engelke UF, Abeling NG, Mandel H, Duran M, Wevers RA. Moolenaar SH, et al. Among authors: engelke uf. J Inherit Metab Dis. 2001 Dec;24(8):843-50. doi: 10.1023/a:1013940207973. J Inherit Metab Dis. 2001. PMID: 11916317

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