Five years ago the first stop would doubtless have been the library reference section, and this is still worthwhile, particularly for
TITLE The Merck manual of diagnosis and therapy. PUBLISHER Rahway, N.J. : Merck Research Laboratories, 1992. 1 > Leyburn-Reference RM127 .M53 1992 2 > Science-Reference RM127 .M53 1992 TITLE The metabolic and molecular bases of inherited disease (MMBID) PUBLISHER New York : McGraw-Hill, Health Professions Division, c1995. 1 > Science-Reference RC627.8 .M47 1995 (3 vols) TITLE Goodman & Gilman's the pharmacological basis of therapeutics. PUBLISHER New York : McGraw-Hill, Health Professions Division, c1996. 1 > Science-Reference RM300 .G644 1996There are several medical dictionaries that may be useful for specialized terminology. This one might be especially worthwhile:
TITLE Concise dictionary of biomedicine and molecular biology PUBLISHER Boca Raton, Fla. : CRC Press, c1996. 1 > Science-Reference R121 .J86 1996
Introduction to Inherited Metabolic Diseases and database features (from OxMedInfo, U.K.)A search for 'tyrosinemia' gets a mere 337 hits.
British Inherited Metabolic Disease Group home page
Directory of Organizations for Endocrine and Metabolic Diseases (links to home pages)
Journal of Inherited Metabolic Disease home page (search tables of contents)
CliniWeb: Metabolic Diseases
list of "1300 [known] Metabolic Diseases"
Karolinska Institute page of links for various metabolic diseases
National Organization for Rare Disorders
One does have to exercise appropriate caution with stuff from the Web. It can be very helpful, especially in the early information-gathering stages of research, but keep in mind that "on the Internet nobody knows you're a dog": anybody can post anything, pretty much.
Library Gateway ==> Research Resources ==> Natural and Physical Sciences ==> Biology (under 'Indexes and Databases')or just use this link to National Center for Biotechnology Information at NIH. Here's a link to one of the tyrosinemia listings, so you can get some sense of the format of OMIM records.
You should be aware of the MeSH (Medical Subject Headings) terminology and how to make effective use of it, as an antidote to simple keyword searches. (choose "MEDLINE report" instead of the default "Abstract report" to see the MeSH headings)
A search for 'tyrosinemia' gets 373 hits and offers a "See Related Articles" search function that's enormously valuable in focusing a search.
When push comes to shove and you NEEEEED an obscure medical journal sooner than ILL can deliver it, the best advice is to *go to Charlottesville and visit the UVa Health Sciences Library.
Library Gateway ==> Research Resources ==> Periodical Indexesor you can use this link to connect to UnCover (and then choose 'Search the UnCover Database').
ILL borrows books from other libraries and gets photocopies of articles from various sources. A request takes about a week, give or take a few days, to fill --depending upon the rarity/obscurity of the source, the efficiency/willingness of various potential lenders, etc.
You fill out a form (either paper or electronic: get paper forms at the Science Library desk, or the Leyburn Reference Desk, or follow this pathLibrary Gateway ==> Leyburn Library ==> Electronic formsto get to the electronic version. You should be sure to check Annie to see if we have the item (for a journal, search by title as if the item was a book), and once you've turned in or e-mailed the completed form, one of the reference librarians (or ideally I myself, if you give me the form) will check to see if there's an online source for the item. Chances are there won't be for most of the material you'll be after, since it's really specialist medical literature.