Tham khảo Carnosinemia

  1. ↑ 'Dự án di truyền Mendel ở người' (trực tuyến) (OMIM) 212200
  2. ↑ DDB 29672
  3. 1 2 3 4 5 6 7 Willi SM, Zhang Y, Hill JB, Phelan MC, Michaelis RC, Holden KR (1997). “A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency”. Pediatr. Res. 41 (2): 210–213. PMID 9029640. doi:10.1203/00006450-199702000-00009. 
  4. 1 2 Perry TL, Hansens S, Tischler B, Bunting R, Perry K (1967). “Carnosinemia. A new metabolic disorder associated with neurological disease and mental defect”. N. Engl. J. Med. 277 (23): 1219–1227. PMID 6058610. doi:10.1056/NEJM196712072772302. 
  5. ↑ Sauerheifer S, Yuan G, Braun GS, Deiner RM, Neumaier M, Gretz N, Floege J, Kriz R, van der Woude F, Moeller MJ (2007). “L-carnosine, a substrate of carnosinase-1, influences glucose metabolism”. Diabetes 56 (10): 2425–2432. PMID 17601992. doi:10.2337/db07-0177. 
  6. ↑ Rashid I, van Reyk DM, Davies MJ (2007). “Carnosine and its constituents inhibit glycation of low-density lipoproteins that promotes foam cell formation in vitro”. FEBS Lett. 581 (5): 1067–1070. PMID 17316626. doi:10.1016/j.febslet.2007.01.082. 
  7. 1 2 Gjessing LR, Lunde HA, Morkrid L, Lenney JF, Sjaastad O (1990). “Inborn errors of carnosine and homocarnosine metabolism”. J Neural Transm Suppl 29: 91–106. ISBN 978-3-211-82142-8. PMID 2358806. doi:10.1007/978-3-7091-9050-0_10. 
  8. 1 2 3 Terplan KL, Cares HL (1972). “Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation”. Neurology 22 (6): 644–655. PMID 4673339. doi:10.1212/wnl.22.6.644. 
  9. 1 2 3 Wisniewski K, Fleisher L, Rassin D, Lassmann H (1981). “Neurological diseases in a child with carnosinase deficiency”. Neuropediatrics 12 (2): 143–151. PMID 7266778. doi:10.1055/s-2008-1059647. 
  10. ↑ Zschocke J, Nebel A, Wicks K, Peters V, El Mokhtari NE, Krawczak M, van der Woude F, Janssen B, Schreiber S (2006). “Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease”. Mech Ageing Dev. 127 (11): 817–820. PMID 16965804. doi:10.1016/j.mad.2006.08.002. 
  11. 1 2 3 4 Jackson MC, Kucera CM, Lenney JF (1991). “Purification and properties of human serum carnosinase”. Clin Chim Acta 196 (2–3): 193–205. PMID 1903095. doi:10.1016/0009-8981(91)90073-L. 
  12. 1 2 3 Lenney JF, Peppers SC, Kucera-Orallo CM, George RP (1985). “Characterization of human tissue carnosinase”. Biochem. J. 228 (3): 653–660. PMC 1145034. PMID 4026801. doi:10.1042/bj2280653. 
  13. 1 2 Lenney JF (1990). “Separation and characterization of two carnosine-splitting cytosolic dipeptides from hog kidney (carnosinase and non-specific dipeptidase)”. Biol Chem Hoppe-Seyler 371 (5): 433–440. PMID 2378680. doi:10.1515/bchm3.1990.371.1.433. 
  14. 1 2 3 Lenney JF, George RP, Weiss AM, Kucera CM, Chan PW, Rinz GS (1982). “Human serum carnosinase: characterization, distinction from cellular carnosinase and activation by cadmium”. Clin Chim Acta 123 (3): 221–231. PMID 7116644. doi:10.1016/0009-8981(82)90166-8. 
  15. ↑ Peppers SC, Lenney JF (1988). “Bestatin inhibition of human tissue carnosinase, a non-specific cytosolic dipeptidase”. Biol Chem Hoppe-Seyler 369 (12): 1281–1286. PMID 3242551. doi:10.1515/bchm3.1988.369.2.1281. 
  16. ↑ Lenney JF (1990). “Human cytosolic carnosinase: evidence of identity with prolinase, a non-specific dipeptidase”. Biol Chem Hoppe-Seyler 371 (2): 167–171. PMID 2334521. doi:10.1515/bchm3.1990.371.1.167. 
  17. ↑ van Heeswijk PJ, Trijbels JM, Schretlen ED, van Munster PJ, Monnens LA (1969). “A patient with a deficiency of serum-carnosinase activity”. Acta Paediatr. Scand. 58 (6): 584–592. PMID 5378348. doi:10.1111/j.1651-2227.1969.tb04766.x. 
  18. ↑ Lenney JF, Peppers SC, Kucera CM, Sjaastad O (1983). “Homocarnosinosis: lack of serum carnosinase is the deficiency probably responsible for elevated brain and CSF homocarnosine”. Clin Chim Acta 132 (2): 157–165. PMID 6616870. doi:10.1016/0009-8981(83)90243-7.