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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: abeling ng. J Inherit Metab Dis. 2001 Dec;24(8):843-50. doi: 10.1023/a:1013940207973. J Inherit Metab Dis. 2001. PMID: 11916317
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: abeling ng. J Inherit Metab Dis. 2000 Dec;23(8):819-25. doi: 10.1023/a:1026760602577. J Inherit Metab Dis. 2000. PMID: 11196107
A far advanced case of gyrate atrophy in a 12-year-old girl.
Bakker HD, Abeling NG, van Schooneveld MJ, Wanders RJ, van Gennip AH. Bakker HD, et al. Among authors: abeling ng. J Inherit Metab Dis. 1991;14(3):379-81. doi: 10.1007/BF01811708. J Inherit Metab Dis. 1991. PMID: 1770797 No abstract available.
100 results