Resources

USEFUL RESOURCES FOR RESEARCHERS AND CLINICIANS IN THE FIELD OF IMDS

This page consists of a list of recommended links to various organisations, scientific societies, research tools, apps and other resources which might be of interest to various stakeholders involved in the field of inherited metabolic disorders (IMDs).

Umbrella Scientific Organisations

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
M4RD – Medics 4 Rare Diseases
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
SIMMESN – Società Italiana per lo studio delle Malattie Metaboliche Ereditairie e lo Screening Neonatale
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
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
Haute Autorité de santé (HAS) – Protocoles nationaux de diagnostic et de soins (PNDS)

Clinical Trials

ClinicalTrials.gov – A service of the U.S. National Institutes of Health
NIH Clinical Research studies
Conect4Children (C4C)

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.

Pharmaceuticals

EMA The European Medicines Agency
FDA The Food and Drug Administration
European Commission – Orphan medicinal products

Useful Apps

IEMbase – A tool designed to help clinicians and scientists in establishing the best diagnosis and introducing the best possible treatment.
Treatable ID – A digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with intellectual disability
eVM – The electronic version of the book “Vademecum Metabolicum”, based on the third English print edition.

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