Umbrella Scientific Organizations
- AECOM – Asociación Española para el Estudio de los Errores Congénitos del Metabolismo
- APS – Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (Working group for paediatric metabolic disturbances, Germany)
- ASIEM – Australasian Society for Inborn Errors of Metabolism
- BIMDG – British Inherited Metabolic Disease Group
- CLIMB – Children Living with Inherited Metabolic Diseases, UK
- CORD – Canadian Organization for Rare Disorders
- EBC – European Brain Council
- ESGCT – European Society of Gene and Cell Therapy
- EURORDIS – European Organisation for Rare Disorders
- GARD – Genetic and Rare Diseases Information Center
- Garrod Association – Canadian Association of Centres for Management of Hereditary Metabolic Diseases
- IBBS – International Brain Barriers Society
- ISIEM – Indian Society for Inborn Errors of Metabolism
- ISNS – International Society for Neonatal Screening
- NINDS – National Institute of Neurological Disorders and Stroke
- NORD – National Organization for Rare Disorders, USA
- NZORD – New Zealand Organisation for Rare Disorders
- SEEIM – Sociedad Española de Errores Innatos del Metabolismo
- SFEIM – Societé Française pour l’Étude des Erreurs Innées du Métabolisme
- SIMD – Society for Inherited Metabolic Disorders
- SISMME – Societa’ Italiana per lo Studio delle Malattie Metaboliche Ereditairie
- SSIEM – The Society for Study of Inborn Errors of Metabolism
Umbrella Support Groups and Patient Information
- DiseaseInfoSearch.org – Spin-off for information about diseases and related support and advocacy networks.
- Genetic Alliance – Nonprofit health advocacy organization devoted to promoting optimum health care for people suffering from genetic disorders
- Genetic Conditions/Rare conditions Support groups
- NORD – Patient Organization Database
- Orphanet – The portal for rare diseases and orphan drugs
- RareConnect – Connecting Rare Disease Patients Globally
- SHCA – Specialised Healthcare Alliance
European Commission Sites
In-depth Information
- GeneReviews – expert-authored, peer-reviewed disease descriptions
- MedlinePlus – Health Information Database of the U.S. National Library of Medicine (NLM)
- Medscape – Web’s medical information and educational tools
- MeSH – Medical Subject Headings
- NCBI – National Center for Biotechnology Information
- NHIC – National Health Information Center
- NIH – National Institute of Health
- NLM – U.S. National Library of Medicine
- OMIM – Online Mendelian Inheritance in Man
- PubMed – Free search engine accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics
Clinical Trials
- ClinicalTrials.gov – A service of the U.S. National Institutes of Health
- NIH Clinical Research studies
Research Sites
- Biochemical NomenclatureReports of IUPAC-IUBMB Joint Commission on Biochemical Nomenclature (JCBN) and Nomenclature Committee of the International Union of Biochemistry and Molecular Biology (NC-IUBMB)
- Biocloud – Biocloud Search EnGene
- GeneTests (Formerly Helix): A National Registry of DNA Diagnostic Laboratories and their tests
- HGMD: Human Genetic Mutation Database, Cardiff.
- ICD10 – International Statistical Classification of Diseases and Related Health Problems 10th Revision
- National Center for Biotechnology Information : Home of NCBI, National Library of Medicine, and NIH
- National Library of Medicine : Services and links from the NLM
- OnLine Metabolic and Molecular Bases of Inherited Disease (OMMBID): The on-line version of the definitive text edited by Scriver et al.
Journals and Publishers
- JournalConsult
- Archives of Disease in Childhood
- Biochemical Journal
- Elsevier Science
- European Journal of Paediatrics
- Journal of Clinical Investigation
- Journal of Inherited Metabolic Disease
- Metabolic Brain Disease
- Molecular Genetics and Metabolism
- Nature
- Neurobiology of Disease
- Proceedings of the National Academy of Sciences
- Science
- Science Direct
- Springer
- The British Medical Journal
- The Journal of Biological Chemistry
- The Journal of Pediatrics
- The Lancet
- The New England Journal of Medicine
Drugs and Medicine
- EMEA The European Medicines Agency
- FDA The Food and Drug Administration
- European Commission – Orphan medicinal products