Biochemical Genetics- Links to Other Sites

• Organizations
  • ACMG, The American College of Medical Genetics
  • SSIEM, The Society for Study of Inborn Errors of Metabolism
  • NSGC, National Society of Genetics Counselors
  • NORD: National Organization for Rare Disorders
• Research Sites
  • General Genetics
    • OnLine Mendelian Inheritance in Man : The on-line version of McKusick's classic compendium.
    • National Center for Biotechnology Information : Home of NCBI, National Library of Medicine, and NIH.
    • Genome Database : Many useful links to biologic and genetic databases around the world.
    • National Library of Medicine : Services and links from the NLM.
    • GeneTests (Formerly Helix): A National Registry of DNA Diagnostic Laboratories and their tests.
    • HUGO Mutation Database Initiative: Mutation Research Centre, Melbourne.
  • Biochemical Genetics
    • Metab-L, a mailing list and informational resource for professionals and others interested in biochemical genetics, maintained by Dr. Christian Renner.
    • NetBiochem : Contains several entries of information developed for biochemistry instruction.
    • WIT (What Is There?) (formerly PUMA, including the Selkov Metabolic Pathways, an extensive list (>1000 entries) of enzyme reactions for many phyla, arranged by pathway, substrate and reaction type. A useful review and instructional aid. Valuable for listing of EC numbers.
    • Mitochondrial Research Society, centered at NIH under Drs. Singh and Zullo.
    • Latin American Metabolic Information Network
  • Molecular Genetics
    • ExPASy molecular biology WWW server of the Swiss Institute of Bioinformatics.
    • ATCG Biological Reagents : A repository of information and links to biotech company products and services.
    • EMBNet, services from Switzerland.
    • Pedro's BioMolecular Research Tools.
    • HUM-MOLGEN, Human Molecular Genetics Internet Forum. Includes lists of scientific meetings and employment opportunities.
• Biochemical Genetics Sites
  • UCSD Biochemical Genetics site of UCSD Pediatrics, Division of Biochemical Genetics.  Includes UCSDW3BG, a www listing of labs and tests in Biochemical Genetics.
  • UCSD Cystinosis site of UCSD Pediatrics, Division of Metabolic Disease.
  • Biopterin Metabolic Defects site maintained by Dr. Blau at Zurich.
  • Royal Children's Hospital Clinical Biochemistry, Melbourne, Australia.
  • St. Louis University Metabolic Screening Lab, Jim Shoemaker MD PhD, Director.
  • Emory University Medical Genetics, including pages from their Biochemical Genetics Laboratory and a database of Galactose-1-phosphate uridyl transferase mutations.
  • Biochemical Genetics Chemical Standards offered by Dr. Herman J. ten Brink, Amsterdam.
  • British Inherited Metabolic Disease Group, a consortium with a directory of laboratories diagnosing metabolic disease in the U.K.
  • European Directory of DNA Laboratories, maintained in Loverval, Belgium.
  • Center for Inherited Disorders of Energy Metabolism, Case Western University. Guidelines to clinical evaluation and details of offerings from that laboratory.
  • Pearson Syndrome international survey, maintained by Dr. Charles Mize, U. Texas Southwestern Medical Center, and others.
  • Chemical standards for clinical diagnosis of inherited metabolic diseases from the Universidad Autómona, Madrid.
  • Please contact me to amend or append this list.
• Medical Sites
  • Medical Coding- ICD-9 codes.
  • UPIN- Unique Physician Idenifier Numbers database.
• Tutorial and Instructional Sites
• Cedars-Sinai Medical Center Biochemical Genetics information maintained by Dr. William Wilcox; includes summaries and diagnostic algorithms.
• Vanderbilt IEM Tutorial case studies with diagnostic exercises, maintained by Dr. Marshall Summar.
• UCSD Chemistry MCAD Tutorial, a very rich and useful presentation by Dr. Dan Harvey.
aX6�
• Tokyo Medical College Genetics Study Group, with several items of interest, including graphic instructional material. Maintained by Dr. Hironao Numabe.

• Journals and Publishers
  • Journal of Inherited Metabolic Disease
  • Archives of Disease in Childhood
  • New England Journal of Medicine
  • The Lancet
  • Journal of Clinical Investigation
  • Proceedings of the National Academy of Sciences
  • European Journal of Paediatrics
  • Journal of Biological Chemistry
  • Elsevier Science - Home Page
  • The British Medical Journal
  • Nature
  • Science
  • The Biochemical Journal
• Support Groups and Patient Information
  • Rare Genetic Diseases in Children: A resource directory which is very valuable for physicians and families alike
  • NORD: National Organization for Rare Disorders
  • National Parent-To-Parent Network: Enabling contact among families with rare disorders, sponsored by the Waisman Center, University of Wisconsin.
  • UMDF: United Mitochondrial Disease Foundation
  • EMDN: Children's Mitochondrial Disease Network, U.K.
  • Mitochondrial and Metabolic Disease Center at UCSD (formerly the Leigh's Center for Children)
  • National PKU News: Directed and edited by Virginia Schuett, MS, RD, Seattle.
  • Gaucher Disease homepage founded by Wayne Rosenfield, Ph.D.  The Gaucher Association is in Dursley, Gloucestershire.
  • Association for Glycogen Storage Disease, United Kingdom
  • FOD Network On-Line: The Fatty Acid Oxidation Disorder Network, a resource for support, education and communication regarding fatty oxidation disorders.
  • CDG Society: Information related to Carbohydrate-Deficient Glycoprotein Syndrome.
  • NKH Parent Network: for families with nonketotic hyperglycinemia.
  • Mitochondrial Disease Action Committee: support and advocacy for patients and families affected by mitochondrial disease
  • Please contact me to amend or append this list.

Maintained by bbarshop@ucsd.edu, of UCSD Biochemical Genetics. Please contact me with comments, corrections, additions.