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For clinicians and scientists in the field of inborn errors of metabolism, good resources include books by Scriver
[1]. Fernandes
[2], Clarke
[3], Blau
[4], Blau
[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 and students seeking good information or networks, the National Institutes of Health offers many resources : the office of rare diseases, genetics home reference, medlineplus and health information. Also part of the NIH, the National Human Genome Research Institute hosts the genetic and rare diseases information center, a section on genetics and genomics for patients and the public and additional educational resources. Other excellent resources include NORD, orphanet and the genetic education center at the KUMC.
References
edit- ^ Scriver, C.R., 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. - Free summaries of 255 chapters, full text of chapters can be accessed through various universities and organizations. Comments can be posted on the OMMBID blog.
- ^
Fernandes, J. (2006). Inborn Metabolic Diseases : Diagnosis and Treatment (4th ed.). Springer. p. 561.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^ Clarke, J.T.R. (2005). A Clinical Guide to Inherited Metabolic Diseases (3rd ed.). Cambridge: Cambridge University Press. p. 358. ISBN 978-0521614993.
- ^
Blau, N (2006). Physician's Guide to the Treatment And Follow-up of Metabolic Diseases (1st ed.). Springer. p. 416. ISBN 3-540-22954-X.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^
Blau, N. (2002). Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases (2nd ed.). Springer. p. 716. ISBN 978-3-540-42542-7.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^
Lyon, G. (2006). Neurology of Hereditary Molecular & Metabolic Disease of Children (3rd ed.). McGraw-Hill Professional. p. 500.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^
Nyhan, W.L. (2005). Atlas of Metabolic Diseases (2nd ed.). Oxford University Press. p. 800.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^
Hoffmann, G.F (2001). Inherited Metabolic diseases. Lippincott Williams & Wilkins. p. 448.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^
Zschocke, J (2004). Vademecum Metabolicum (2nd ed.). Schattauer GmbH. p. 176.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^ Saudubray J, Sedel F, Walter J (2006). "Clinical approach to treatable inborn metabolic diseases: an introduction". J Inherit Metab Dis. 29 (2–3): 261–74. doi:10.1007/s10545-006-0358-0. PMID 16763886. S2CID 21851363.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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. doi:10.1046/j.1440-1754.2002.00047.x. PMID 12354271. S2CID 8719017.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Burton B (1998). "Inborn errors of metabolism in infancy: a guide to diagnosis". Pediatrics. 102 (6): E69. doi:10.1542/peds.102.6.e69. PMID 9832597.
- ^
Hay, W.H., Jr. (2006). Current Pediatric Diagnosis and Treatment (18th ed.). McGraw-Hill. p. 1306.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help)CS1 maint: multiple names: authors list (link) - ^
Behrman, R.E. (2004). Nelson Textbook of Pediatrics (17th ed.). Elsevier. p. 2672.
{{cite book}}: Unknown parameter|coauthors=ignored (|author=suggested) (help)