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- Affiliated Organizations
- SIMD - Society for
Inherited Metabolic Disorders
- SSIEM, The Society for Study of
Inborn Errors of Metabolism
- SEEIM, Sociedad Española
de Errores Innatos del Metabolismo
- JSIMD, Japanese Society of
Inherited Metabolic Diseases
- SISMME, Societa' Italiana per lo
Studio delle Malattie Metaboliche Ereditairie
- Garrod Association - Canadian
Association of Centres for the Management of Hereditary Metabolic
Diseases
- REDLAEM, Red Latino-Americano
sobre Enfermedades Metabolicas Hereditarias
-
ASIEM,
Australasian Society for Inborn Errors of Metabolism
-
SFEIM,
Societé Française pour l'Étude des Erreurs Innées du Metabolisme,
contact via email to Dr.
Guy Touati
- APS, Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen
(Working group for paediatric metabolic disturbances, Germany)
- AECOM, Asociación Española para el Estudio de los Errores Congénitos
del Metabolismo, contact via email to Dr.
Guillermo Pintos
- SIEMI, Society for Inborn Errors of Metabolism of India, email to
Dr.
I.C. Verma
- ACMG, The American
College of Medical Genetics
- ISNS, International
Society for Neonatal Screening
- NSGC, National Society of Genetics Counselors
- NORD: National Organization
for Rare Disorders
- MMS:
Mitochondrial Medicine Society
- Research Sites
OnLine Mendelian
Inheritance in Man (OMIM): The on-line version of McKusick's classic compendium.
-
OnLine Metabolic and Molecular Bases of Inherited Disease (OMMBID):
The on-line version of the definitive text edited by Scriver et
al.
-
OMMBID Blog: to permit discussions on the contents of the
Online
Molecular and Metabolic Bases of Inherited Disorders, and also
discussions on new discoveries or endeavours in the field of
inherited disorders. Started/Administered by Dr. Philippe
Campeau, McGill.
- KEGG : The Kyoto
Encyclopedia of Genes and Genomes.
- 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.
-
HGMD: Human
Genetic Mutation Database, Cardiff.
- GeneTests (Formerly Helix): A
National Registry of DNA Diagnostic Laboratories and their tests.
-
EDDNAL.
European Directory of DNA Laboratories
-
HUGO Mutation Database
Initiative: Mutation Research Centre, Melbourne.
- Hum-Molgen:
International communication forum in human molecular genetics.
- Biochemical
Nomenclature. Reports of IUPAC-IUBMB Joint Commission on
Biochemical Nomenclature (JCBN) and Nomenclature Committee of the
International Union of Biochemistry and Molecular Biology (NC-IUBMB)-
maintained by G. P. Moss, Department of Chemistry, Queen Mary and
Westfield College, London.
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.
-
Metabolic Maps and Minimaps, created by Dr. Donald Nicholson,
Leeds
- Mitochondrial
Research Society, centered at NIH under Drs. Singh and Zullo.
Molecular Genetics
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.
-
Chemical
standards for clinical diagnosis of inherited metabolic diseases
from Dr. Ernesto Brunet, Universidad Autónoma, Madrid.
-
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.
- Center for Inherited
Disorders of Energy Metabolism, Case Western University. Guidelines to clinical
evaluation and details of offerings from that laboratory.
- Emory University
Medical Genetics, including pages from their Biochemical Genetics Laboratory and a
database of Galactose-1-phosphate uridyl transferase mutations.
- European Directory of DNA Laboratories,
maintained in Loverval, Belgium.
-
Lysosomal Disease Network, Dr. Chester Whitley, University of
Minnesota
-
Pearson
Syndrome international survey, maintained by Dr. Charles Mize, U. Texas Southwestern
Medical Center, and others.
- Royal Children's
Hospital Clinical Biochemistry, Melbourne, Australia.
- St. Louis University Metabolic
Screening Lab, Jim Shoemaker MD PhD, Director.
- Please contact me to amend or append this list.
Mitochondrial Sites
Tutorial and Instructional Sites
Journals and Publishers
Support Groups and Patient Information
-
Association
for Glycogen Storage Disease, United Kingdom
- CDG Society:
Information related to Carbohydrate-Deficient Glycoprotein Syndrome.
- EMDN:
Children's Mitochondrial Disease Network, U.K.
- FOD Network On-Line: The
Fatty Acid Oxidation Disorder Network, a resource for support, education and communication
regarding fatty oxidation disorders.
- Gaucher Disease homepage
founded by Wayne Rosenfield, Ph.D. The Gaucher Association is in
Dursley, Gloucestershire.
-
Lysosomal Disease Network, Dr. Chester Whitley, University of
Minnesota
- Mitochondrial
Disease Action Committee: support and advocacy for patients and
families affected by mitochondrial disease
- Mitochondrial and Metabolic
Disease Center at UCSD (formerly the Leigh's Center for Children)
- National Coalition
for PKU and Allied Disorders: Involved with issues related to errors
of metabolism requiring low protein diet; USA
- National Information and Advice
Centre for Metabolic Diseases / CLIMB (Children Living with
Inherited Metabolic Disease), UK/Wordwide
- National Parent-To-Parent
Network: Enabling contact among families with rare disorders, sponsored by the Waisman
Center, University of Wisconsin.
- National PKU News:
Directed and edited by Virginia Schuett, MS, RD, Seattle.
- NKH Parent Network:
for families with nonketotic hyperglycinemia.
- NORD: National Organization
for Rare Disorders
- NUCDF: National
Urea Cylce Disorders Foundation
- OAA: The Organic Acidemia
Association.
- PKU World Link:
Information about phenylketonuria and the community of people with PKU, by Sarah Foster,
Boston, Mass., USA
-
Rare Genetic
Diseases in Children: A resource directory which is valuable for physicians and
families alike
- UMDF: United Mitochondrial Disease
Foundation
-
- Please contact me to amend or append this list.
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