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Websites

Diagnostic Services


Association for Glycogen Storage Disease, UK
http://www.agsd.org.uk/

Cerebral Folate Deficiency Home Page
http://www.folates.com/

Children living with inherited metabolic diseases
http://www.climb.org.uk/

Cochrane Cystic Fibrosis and Genetic Disorders Group
http://www.liv.ac.uk/cfgd

Congenital Disorders of Glycosylation (CDG)
http://www.kuleuven.ac.be/med/cdg

Databases of Pediatric Neurotransmitter Disorders inc. PKU
http://www.biopku.org

European Directory of DNA Laboratories
http://www.eddnal.com/

Fatty Oxidation Disorders (FOD) Family Support Group
http://www.fodsupport.org/

Foundation for the Study of Infant Deaths
http://www.sids.org.uk/fsid/

Gauchers Association, UK
http://www.gaucher.org.uk/

Hunter Disease eClinic
http://www.lysosomalstorageresearch.ca/index.php?option=com_content&view=category&layout=blog&id=19&Itemid=18
a multimedia virtual clinic applied specifically to mucopolysaccharidosis type II (MPS II, Hunter disease)
KUMC Genetics Education Center
http://www.kumc.edu/gec/

Metab-L Mailing List
http://www.franken.de/lists/metab-l/

Mitochondria Research Society
http://www.mitoresearch.org/

Mitochondrial Medicine Society (MMS)
http://www.mitosoc.org/

National Metabolic Biochemistry Network
http://www.metbio.net/

National Niemann-Pick Disease Foundation
http://www.nnpdf.org/

National Organization for Rare Disorders (NORD)
http://www.rarediseases.org/

National Society for Phenylketonuria
http://www.nspku.org

OMIM -- Online Mendelian Inheritance in Man
http://www3.ncbi.nlm.nih.gov/Omim/

Organic Acidemia Association
http://www.oaanews.org/

Orphan Europe Academy
http://www.orphan-academy.com/

Orphanet
http://www.orpha.net
ORPHANET is a database dedicated to information on rare diseases and orphan drugs.
Pediatric Neurotransmitter Disease Association
http://www.pndassoc.org/

PKU World Link
http://www.pkuworldlink.org/

Tetrahydrobiopterin Home Page
http://www.bh4.org/
All you need to know about BH4.
The Children's Mitchondrial Disease Network
http://www.emdn-mitonet.co.uk/

The Pompe's Disease Page
http://www.pompe.org.uk/

The Society for Mucopolysaccharide Diseases Home Page
http://www.mpssociety.co.uk

United Mitochondrial Disease Foundation
http://www.umdf.org/

 

   

Frequently accessed websites
Journal of Inherited Metabolic Disease
Official Journal of the SSIEM
BIMDG | ERNDIM |  NORD

Website Categories
Books
Journals and Publishers
Learned Societies
Diagnostic Services
Databases, Information Sources

Useful Resources
Inborn Errors Classification


 


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