Information about IMD, Newborn Screening and Related Topics
- NHS Inform – NHS Scotland public information portal where you can search for more detail on individual inherited metabolic disorders: http://www.nhsinform.co.uk/
- Lab Test Online UK – A public resource on clinical lab testing: www.labtestonline.org.uk
- Screening Scotland – Newborn Bloodspot Screening: http://www.nhsinform.co.uk/screening/newborn/bloodspottest/
- STAR-G (Screening, Technology and Research in Genetics) (USA) – provides fact sheets for diseases which are part of extended newborn screening: www.newbornscreening.info
- UK Newborn Screening Programme: https://www.gov.uk/topic/population-screening-programmes/newborn-blood-spot
The various voluntary sector organisations listed below also provide a wide range of condition specific information materials
Voluntary Sector Organisations
- British Porphyria Association: www.porphyria.org.uk
- CLIMB – Children Living with Inherited Metabolic Diseases: www.climb.org.uk
- Galactosaemia Support Group: http://www.galactosaemia.org/
- Gaucher Society: http://www.gaucher.org.uk/
- Genetic Alliance: http://www.geneticalliance.org.uk/
- MPS Society: http://www.mpssociety.org.uk/
- NSPKU – National Society for Phenylketonuria: http://www.nspku.org/
- TMAU Support: http://www.tmau.org.uk/
Additional Information for Healthcare Professionals
- Education about Genetic Inheritance: www.geneticseducation.nhs.uk
- OMIM – Online Mendelian Inheritance in Man Database of Genetic Conditions: http://omim.org/
- Orphanet – European database of rare diseases, including IMD: www.orpha.net
- Public Health Genetics Report – Metabolic Pathways: Networks of Care: http://www.phgfoundation.org/reports/4965/
- UKNSLN – UK Newborn Screening Laboratories Network: www.newbornscreening.org
Professional Organisations
- Association for Clinical Biochemistry: www.acb.org.uk
- BIMDIG – British Inherited Metabolic Disease Group: www.bimdig.org.uk
- GMDI – Genetic Metabolic Dietitians International: www.gmdi.org
- MetBioNet – National Metabolic Biochemistry Network: www.metbio.net
- Royal College of Paediatrics and Child Health: www.rcpch.ac.uk
- Royal College of Pathologists: www.rcpath.org
- SSIEM – Society for the Study of Inborn Errors of Metabolism: www.ssiem.org.uk
Research and Evidence Base
- Clinical Trials.gov (USA) – Provides information on current trials: www.clinicaltrials.gov
- eMedicine Paediatrics – Genetics and Metabolic Disease Articles: www.emedicine.medscape.com
- ERNDIM – The European Research Network for evaluation and improvement of screening, diagnosis and treatment of Inherited Metabolic Disorders. www.erndim.org
National Centre for Biotechnology Information (USA): www.nsbi.nlm.nig.gov