Chem 281: Finding information on metabolic diseases

Where to begin, once you have a named disease in mind? Think for a moment about the whole process: ultimately you need to find but in order to make sense of what you find in them you probably need some In any case, you need to become sufficiently familiar to present information coherently to an audience that doesn't have the specialized knowledge you'll have developed.

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 1996
There 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

Another basic resource is WWW search engines, such as AltaVista. These are especially valuable if you already know some specialized terminology, because you can avoid having to wander through a lot of unprofitable stuff to find a few gems. Thus, I did an AltaVista search for "metabolic diseases" (NB: using the quote marks forces a search for the phrase) and got 5000+ hits --"too many" to make efficient use of. I've harvested a few of the most likely-looking sites, concentrating on those which looked like they might lead you to other useful things:
Introduction to Inherited Metabolic Diseases and database features (from OxMedInfo, U.K.)

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

A search for 'tyrosinemia' gets a mere 337 hits.
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.
Probably the single most important resource in the realm of online resources is OMIM (Online Mendelian Inheritance in Man), a huge compendium of up-to-date information (as well as discussion of the literature history) on ALL diseases with genetic components. You can find a link to OMIM via the following path in the W&L website:

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.
Another valuable resource is PubMed, the National Library of Medicine's MEDLINE database. You can find a link via the Biology page as above, or use this link to PubMed

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.

Cambridge Scientific Abstracts may prove useful for some topics, though it is in general more biological in its coverage than chemical or biomedical. There is an interface to the last 5 years of MEDLINE. You can use this link to connect or find it via the link on the Biology page.
The databases above index the primary and secondary research literature, and often your first question once you've found an item is: do we have this journal? Answer that by looking up the journal in Annie by its title. There's also a list of the journals we receive accessible via the Science Library page, including links to online text and journal home pages where available. Our journal resources for metabolic diseases are certainly limited, but there are several titles in the Science Library which you should be aware of (those with home pages have links, and generally offer search engines): It's sometimes useful to know who the publisher of a journal is; some publishers have web sites which permit keyword searching of all of the journals they publish, and in a few cases (Academic Press being the most salient) we can get full text of journals electronically. Many journals in the broad area if 'medical sciences' now have web presences, though for most access to full text requires a paid subscription.

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.

And one more that you should know about to find the most recent articles is UnCover, a database of tables of contents of more than 15,000 journals. There is a link to UnCover under
Library Gateway ==> Research Resources ==> Periodical Indexes
or you can use this link to connect to UnCover (and then choose 'Search the UnCover Database').
So how do you get hold of stuff that we don't have? The answer is often InterLibrary Loan, so you need to know the procedures and parameters for that service.
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 path 

	Library Gateway ==> Leyburn Library ==> Electronic forms
to 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.