User talk:Philippe Campeau: Difference between revisions

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(Syndromes)
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== Syndromes ==
Hi. Philippe, thanks for your note. I think it would be wonderful to have a whole series of articles on syndromes. The sort of thing that is accurate and detailed enough to be a useful reference for professionals, and at the same time is written plainly enough and sympathetically enough to be a useful resource for families and for adults with the syndromes. I'd love it if you would start some, and I promise I will pitch in. Thanks, Nancy [[User:Nancy Sculerati MD|Nancy Sculerati MD]] 00:39, 29 January 2007 (CST)

Revision as of 00:41, 29 January 2007

Mitochondrial genetic or other types

Hello Philippe, I read your note on Dr. Nancy Schulerati's page about genetic congenital metabolism problems (?). I was wondering if these were mitochondrial problems or something else. If you are referring to mitochondrial "problems" then could you recommend some reviews in a few journals for me to read on this or on the metabolism genetics you specialize in. -Tom Kelly (Talk) 16:20, 28 January 2007 (CST)

Of course.
For clinicians and scientists in the field of inborn errors of metabolism, good resources include books by Scriver[1]. Fernandes[2], Clarke[3], Blau (diagnosis)[4], Blau (treatment) [5], Lyon[6], Nyhan[7], Hoffmann[8] and Zschocke[9]. Other ressources include genetests, orphanet, OMIM, societies such as the SSIEM, the SIMD and links therein. For medical students and clinicians looking for overviews of the field, such reviews can be found on pubmed and in good pediatric textbooks (e.g. articles by Saudubray[10], Ellaway[11], Raghuveer[12] or Burton[13] and textbooks by Hay[14] or Behrman[15]).



For patients, their families or other individuals seeking good information and support groups, the National Institutes of Health offers the office of rare diseases, genetics home reference, medlineplus and health information. The National Human Genome Research Institute hosts an information center, a section for patients and the public and additional educational resources. Support groups can be found at NORD, Genetic Alliance and Orphanet. The genetic education center at the KUMC has many more useful links.


Now for mitochodrial disorders specifically, there is a wikipedia article about mitochondrial diseases. There are many good review articles in pubmed including this recent one by Schapira[16]. Hope this helps!

Hi. Philippe, thanks for your note. I think it would be wonderful to have a whole series of articles on syndromes. The sort of thing that is accurate and detailed enough to be a useful reference for professionals, and at the same time is written plainly enough and sympathetically enough to be a useful resource for families and for adults with the syndromes. I'd love it if you would start some, and I promise I will pitch in. Thanks, Nancy Nancy Sculerati MD 00:39, 29 January 2007 (CST)

References



  1. ↑ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.
  2. ↑ Fernandes, J.; Saudubray, J.M.; van den Berghe, G.; Walter, J.H. (2006). Inborn Metabolic Diseases : Diagnosis and Treatment, 4th. Springer, 561 p. 
  3. ↑ Clarke, J.T.R. (2005). A Clinical Guide to Inherited Metabolic Diseases, 3rd. Cambridge: Cambridge University Press, 358 p. DOI:10.2277/0521614996. ISBN 978-0521614993. 
  4. ↑ Blau, N.; Duran, M.; Blaskovics, M.E.; Gibson, K.M. (2002). Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, 2nd. Springer, 716 p. ISBN 978-3-540-42542-7. 
  5. ↑ Blau, N; Hoffmann, G.F.; Leonard, J.; Clarke, J.T.R. (2006). Physician's Guide to the Treatment And Follow-up of Metabolic Diseases, 1st. Springer, 416 p. ISBN 3-540-22954-X. 
  6. ↑ Lyon, G.; Kolodny, E.H.; Pastores, G. (2006). Neurology of Hereditary Molecular & Metabolic Disease of Children, 3rd. McGraw-Hill Professional, 500p. 
  7. ↑ Nyhan, W.L.; Barshop, B.; Ozand, P.T. (2005). Atlas of Metabolic Diseases, 2nd. Oxford University Press, 800 p. 
  8. ↑ Hoffmann, G.F; Nyhan, W.L.; Zschocke, J.; Kahler, S.G; Mayatepek, E. (2001). Inherited Metabolic diseases. Lippincott Williams & Wilkins, 448 p. 
  9. ↑ Zschocke, J; Hoffmann, G.F. (2004). Vademecum Metabolicum, 2nd. Schattauer GmbH, 176 p. 
  10. ↑ Saudubray J, Sedel F, Walter J. "Clinical approach to treatable inborn metabolic diseases: an introduction". J Inherit Metab Dis 29 (2-3): 261-74. PMID 16763886.
  11. ↑ Ellaway C, Wilcken B, Christodoulou J (2002). "Clinical approach to inborn errors of metabolism presenting in the newborn period". J Paediatr Child Health 38 (5): 511-7. PMID 12354271.
  12. ↑ Raghuveer T, Garg U, Graf W (2006). "Inborn errors of metabolism in infancy and early childhood: an update". Am Fam Physician 73 (11): 1981-90. PMID 16770930.
  13. ↑ Burton B (1998). "Inborn errors of metabolism in infancy: a guide to diagnosis". Pediatrics 102 (6): E69. PMID 9832597.
  14. ↑ Hay, W.H., Jr.; Levin, M.J.; Sondheimer, J.M.; Deterding, R.R. (2006). Current Pediatric Diagnosis and Treatment, 18th ed.. McGraw-Hill, 1306 p. 
  15. ↑ Behrman, R.E.; Kliegman, R.M.; Jenson, H.B. (2004). Nelson Textbook of Pediatrics, 17th ed.. Elsevier, 2672 p. 
  16. ↑ Schapira A (2006). "Mitochondrial disease". Lancet 368 (9529): 70-82. PMID 16815381.

Syndromes

Hi. Philippe, thanks for your note. I think it would be wonderful to have a whole series of articles on syndromes. The sort of thing that is accurate and detailed enough to be a useful reference for professionals, and at the same time is written plainly enough and sympathetically enough to be a useful resource for families and for adults with the syndromes. I'd love it if you would start some, and I promise I will pitch in. Thanks, Nancy Nancy Sculerati MD 00:39, 29 January 2007 (CST)

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