Acta Med. 2002, 45: 129-133
https://doi.org/10.14712/18059694.2019.69
Microelements and Inherited Metabolic Diseases
References
1. Driskell JA. Vitamin and Mineral Toxicities in Adults. In: Foods and Nutrition. NebFact, Nebraska-Lincoln 1992:128–33.
2. MC, Johnson JL, Marriage B et al. Isolated sulfite oxidase deficiency: review of two cases in one family. Ophthalmology 1999; 106:1957–61.
<https://doi.org/10.1016/S0161-6420(99)90408-6>
3. B. Hereditary haemochromatosis: more causative genes [Journal Club]. TIBS 2001; 26:473.
4. DH, Casey RE. Menkes disease after copper histidine replacement therapy: case report. Pediatr Dev Pathol 2001; 4:281–8.
<https://doi.org/10.1007/s100240010142>
5. PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB. Diagnosis of Wilson’s disease: an experience over three decades. Gut 2000; 46:415–9.
<https://doi.org/10.1136/gut.46.3.415>
<PubMed>
6. EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol 2001; 154:193–206.
<https://doi.org/10.1093/aje/154.3.193>
7. K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai OJ. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. Clin Invest 1997; 99:2391–7.
<https://doi.org/10.1172/JCI119421>
<PubMed>
8. F. B. Mercer JFB. The molecular basis of copper-transport diseases. Trends in Molecular Medicine 2001; 7:64–69.
9. Koolman J, Röhm KH. Color atlas of biochemistry. Stuttgart, New York: Thieme, 1996:435.
10. D. Acrodermatitis enteropathica—congenital zinc deficiency syndrome. Wiad Lek 1992; 45:454–7.
11. CJ, Ellis DR, Driskell JA. A report of vitamin and mineral supplement use among university athletes in a division I institution. Int J Sport Nutr 1999; 9:416–25.
<https://doi.org/10.1123/ijsn.9.4.416>
12. JC, Bhatt HR. Inherited errors of cobalamin metabolism and their management. Baillieres Clin Haematol 1995; 8:567–601.
<https://doi.org/10.1016/S0950-3536(05)80221-5>
13. I, Bremer HJ. Primary and secondary disturbances in trace element metabolism connected with genetic metabolic disorders. Nutr Metab 1977; 21: 49–64.
<https://doi.org/10.1159/000175753>
14. M, Montgomery T, Holland R et al. Bovine hereditary zinc deficiency: lethal trait A 46. J Vet Diagn Invest 1996; 8:219–27.
<https://doi.org/10.1177/104063879600800212>
15. KM, Anttila PH, Kanerva L, Johansson E. Histopathological study of transient acrodermatitis enteropathica due to decreased zinc in breast milk. J Cutan Pathol 1989; 16:382–7.
<https://doi.org/10.1111/j.1600-0560.1989.tb00590.x>
16. B, Cederblad A, Lindblad BS, Lönnerdal B. Acrodermatitis enteropathica, zinc metabolism, copper status, and immune function. Arch Pediatr Adolesc Med 1994; 148:980–5.
<https://doi.org/10.1001/archpedi.1994.02170090094017>
17. A, Mandel H, Reiss J, et al. Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. Am J Hum Genet 1998; 63:148–54.
<https://doi.org/10.1086/301916>
<PubMed>
18. HM, Overweg-Plandsoen WC, Bakker HD et al. Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions. Neuropediatrics 1993; 24:139–42.
<https://doi.org/10.1055/s-2008-1071531>
19. D, Mercer JFB, Dieter HH, Stremmel Wand Gerd Multhaup G. Copper in disorders with neurological symptoms: Alzheimer’s, Menkes, and Wilson diseases. Brain Research Bulletin 2001; 55:175–85.
<https://doi.org/10.1016/S0361-9230(01)00454-3>
20. JP, Uijlenbroek JJ. The role of the pancreas in the regulation of zinc status. Biol Trace Elem Res 1994; 42:143–9.
<https://doi.org/10.1007/BF02785385>
21. Zimmermann M. Micronutrients in health and disease. Stuttgart, New York: Thieme, 2001:240.
22. Zschocke J, Hoffmann GF. Vademecum metabolicum, Milupa GmbH & Co KG 1999:111.
