Resources
For clinicians and scientists in the field of inborn errors of metabolism, good resources include books by Scriver, Fernandes, Clarke, Blau (diagnosis), Blau (treatment), Lyon, Nyhan, Hoffmann, and Zschocke. Other resources include genetests, orphanet, OMIM, Metab-L, 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, Ellaway, Raghuveer or Burton, and textbooks by Hay or Behrman).
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.
Read more about this topic: Inborn Error Of Metabolism
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