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Page 1
Two Greek siblings with sepiapterin reductase deficiency.
Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI. Verbeek MM, et al. Among authors: wevers ra. Mol Genet Metab. 2008 Aug;94(4):403-409. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. Mol Genet Metab. 2008. PMID: 18502672
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
DE Lonlay P, Nassogne MC, van Gennip AH, van Cruchten AC, Billatte de Villemeur T, Cretz M, Stoll C, Launay JM, Steenberger-Spante GC, van den Heuvel LP, Wevers RA, Saudubray JM, Abeling NG. DE Lonlay P, et al. Among authors: wevers ra. J Inherit Metab Dis. 2000 Dec;23(8):819-25. doi: 10.1023/a:1026760602577. J Inherit Metab Dis. 2000. PMID: 11196107
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: wevers ra. J Inherit Metab Dis. 2001 Dec;24(8):843-50. doi: 10.1023/a:1013940207973. J Inherit Metab Dis. 2001. PMID: 11916317
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. Among authors: wevers ra. 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
535 results