Dr. Hugo Moser, perhaps the foremost specialist on peroxisomal disorders.
Kennedy Krieger Institute, Johns Hopkins University School of Medicine
707 North Broadway
Baltimore, Maryland 21205 USA
Telephone: (410)550-9405
Fax: (410)550-9839.
Dr. Gerald Raymond, colleague of Dr. Moser, director of an FDA-funded
study of the treatment of peroxisome assembly disorders using the
compound docosahexaenoic acid with arachidonic acid
e-mail: Gerald Raymond, M.D. <raymond@kennedykrieger.org>
http://www.kennedydrieger.org/research/raymond.htm
Women's and Children's Hospital, North Adelaide, South Australia 5006
Australasian Referral Laboratory for the diagnosis of Lysosomal,
Peroxisomal, and other Genetic Disorders
http://www.health.adelaide.edu.au/NRL/research.htm
Gifu University School of Medicine, 40 Tsukasmachi, Gifu 500, Japan
Prof. Dr Ronald J.A. Wanders, biochemist
Prof. Dr. Peter Barth, neuropediatrician
Prof. Dr. Hugo S.A. Heijmans, pediatrician
This laboratory has become one of the reference centers for the diagnosis
of peroxisomal disorders, both postnatal and prenatal. In addition the
clinic has a central function in the care and treatment of patients with
various peroxisomal disorders including Infantile Refsum's Disease.
Emma Children's Hospital AMC, University of Amsterdam
Department of Clinical Chemistry, Laboratory of Genetic Metabolic
Disease.
P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.
Telephone: +31 20 566 5958
Fax: +31
20 696 2596
Dr. Manuela Martinez, a physician who was the first researcher to report
the deficiency of DHA in patients with IRD and other peroxisomal biogenesis
disorders, and who offers a DHA supplementation therapy as a matter of
established benefit.
Dr. Martinez is a proponent of the view that given very early in life,
during the time when DHA accretion is maximal in the developing brain,
DHA therapy is at its most effective.
Hospital Materno-Infantil Valle de Hebron
Plante 14, P. Valle de Hebron, 119-129 08035 Barcelona,
Spain
Telephone: 34-93-489-4065 (direct)
34-93-489-4067 (secretary)
e-mail [at the hospital] <mmr@hg.vhebron.es>
[at home] <3572mmr@comb.es>
http://www.momtahan.com/mmartinez
**************
Centro de Investigaciones en Bioquimica (CIBI)
Universidad de los Andes
Carrera 1, No. 18, 10 Edificio M Piso 3
Santafe de Bogota, Columbia
Telephone: 2866289 or 2824066 ext. 2780
e-mail: <jeuribe@uniandes.edu.co>
(Dr Alfredo Uribe, director)
This laboratory performs tests to aid in the diagnosis of various metabolic
disorders, with specialization in the study of neurodegenerative diseases
including IRD and other peroxisomal disorders.
Dr. Robert Steiner, Ian's physician, has kindly volunteered to
help refer parents to knowldgeable specialists in their area of the world.
Dr Steiner is the director of the Metabolic Clinic of the
Child Development and Rehabilitation Center (CDRC),
Oregon Health Sciences University (OHSU)
http://www.ohsu.edu/cdrd
CDRC-F, PO Box 574
707 SW Gaines Rd
Portland, Oregon 97207-0574 USA
Telephone: (503)494-7859
Fax:
(503)494-2781
e-mail: Robert Steiner, M.D <steinerr@ohsu.edu>
http://www.ohsu.edu/som-Pediatrics/faculty/steinerr.htm
http://www.peroxisome.org
The Peroxisome Website
This site was created and is maintained by the laboratory of Stephen
J Gould at the Johns Hopkins University School of Medicine, and provides
information and references on the structure, assembly and function of the
peroxisome, and the peroxisomal disorders. It also contains numerous links
to the websites of other peroxisome researchers worldwide.
http://www.kennedykrieger.org/
The Kennedy Krieger Institute, Johns Hopkins University School of Medicine
http://www.pcnet.com/~orphan/
National Organization for Rare Disorders (NORD)
NORD is a federation of voluntary health organizations dedicated to
helping people with rare "orphan" diseases through programs of education,
advocacy, research and service.
http://www.climb.org.uk
Climb (Support Services)
The Quadrangle, Crewe Hall, Weston Road
Crewe, Cheshire, England CW1 6UR
Telephone: 01270 250221
Fax: 01270
250244
Climb (Children Living with Inherited MetaBolic diseases) is a national
umbrella organization in the UK working on behalf of children, young people,
and families affected by metabolic disease, providing emotional and practical
support, information and advice, and funding for research. Founded in 1981,
and formerly known as the Research Trust for Metabolic Disease in Children.
http://mcrcr2.med.nyu.edu/murphp01/homenew.htm
Rare Genetic Diseases in Children: An Internet Resource Gateway
This website targets issues arising from rare genetic diseases affecting
children. A source of information, contact and support for families and
caregivers.
http://www.ssiem.org.uk/ssiemj.html
Society for the Study of Inborn Errors in Metabolism (SSIEM)
SSIEM exists to promote the exchange of ideas between professional
workers in different disciplines who are interested in inherited metabolic
disease and related topics
http://www3.ncbi.nlm.nih.gov/omim
Online Mendelian Inheritance in Man (OMIM)
This database is a catalog of human genes and genetic disorders authored
and edited by Dr. Victor McKusick and his colleagues at Johns Hopkins and
elsewhere. It contains textual information, illustrations, and reference
information.
http://www.ncbi.nlm.nih.gov/entrez
MEDLINE/PubMed
Searchable database of references and abstracts from 4300 medical journals.
United States Library of Medicine, NIH
http://www.ulf.org
United Leukodystrophy Foundation
The ULF is a nonprofit organization providing information about the
leukodystrophies and identifying sources of medical care, social services,
and genetic counseling. It promotes and supports research into the
causes and treatment of the leukodystrophies, which are a group of genetic
disorders (including IRD and several other peroxisomal disorders) affecting
the myelin.
http://www.our-kids.org
Our-Kids is a support group for parents, caregivers and others who
are working with children with physical and/or mental disabilities and
delays. The Our-Kids website supports the Our-Kids e-mail list - wonderful,
busy, supportive and family-oriented.
http://just4u.com/iem/
Inborn Errors of Metabolism Family web site (IEM-FAMILY)
Another family-oriented website, with an associated mail-list
http://www.joejohnson.net/
The web page of a parent whose son is diagnosed with neonatal adrenoleukodystrophy
(NALD). It is concerned with issues of all leukodystrophies, and hosts
a long-running and active discussion board on the subject.
http://web.indstate.edu/thcme/mwking/inborn.html
Inborn Errors of Metabolism
http://web.indstate.edu/thcme/mwking/peroxisomedisorders.html
Disorders of Peroxisome Biogenesis (OMIM)
http://www.ohsu.edu/cliniweb/wwwvl/other_med.html
World Wide Web Virtual Library: Biosciences: Medicine
A comprehensive list of medical information resources, indices and
directories. Maintained by the Biomedical Information Communication Center,
OHSU
http://www.mblab.gla.ac.uk/dictionary/
On-line Dictionary of Cell Biology
http://www.chmeds.ac.nz/~mkennedy/gsflpex.htm
Gene Structure and Function Laboratory: Peroxisomes and Disease
Christchurch School of Medicine, New Zealand
http://web.indstate.edu/thcme/mwking/lipid-synthesis.html
Lipid Metabolism
An overview of the synthesis, structure and metabolism of lipids.
Indiana University School of Medicine, Terre Haute Center for Medical
Education
http://www-biology.ucsd.edu/classes/bibc102.SP00/intro102.html
Introduction to Metabolic Biochemistry
Lukas K Buehler, University of California San Diego
Including sections on lipid metabolism (fatty acids, fats & oils,
phospholipids, steroids & steroid hormones, and the fat-soluble vitamins);
protein and DNA structure; membrane transport; energy metabolism; nitrogen
metabolism.
http://mcrcr2.med.nyu.edu/murphp01/lysosome/hgd.htm
Human Genetic Disease: A Layman's Approach
Dr. Kelley Moremen, University of Georgia Complex Carbohydrate Research
Center
Dr. Dag Malm, University of Tromso, Norway
A complete book on-line, written specifically to explain lysosomal
storage diseases, however containing a great deal of general information
on cell structure and biology; the synthesis and metabolism of proteins,
lipids and carbohydrates; and the priciples of genetics and Mendelian inheritance.
http://www.geodata.soton.ac.uk/hm/ultra/text_a.htm
Human Morphology - Cell Ultrastructure
Dr Ian Stewart, University of Southamton, England
A series of text pages with supporting diagrams and micrographs covering
all aspects of animal cell ultrastructure.
http://www.neuropat.dote.hu/document.htm
Neuroanatomy and Neurosciences on the Internet
A comprehensive and well-organized site with links to more than 300
academic and medical websites providing information on cell structure and
biochemistry (both basic and as pertaining to neurology); cellular and
large-scale anatomy and function of the brain, central nervous system,
peripheral nervous system, and sensory organs; and neuropatholgy and disease.
Via the Department of Neurology, University of Debrecen, Hungary. (in English)
http://www.chem.qmw.ac.uk/iupac/lipid
International Union of Pure and Applied Chemistry
IUPAC-IUB Commission on Biochemical Nomenclature
(G.P Moss, Department of Chemistry,
Queen Mary and Westfield College, London, England)
On the nomenclature of lipids - fatty acids & alcohols, sphingonine
& derivatives, glycerol deriviatives, phospholipids, glycolipids, and
neuraminic acids.
http://www.weihenstephan.de/~schlind/genglos.html
Birgid Schlindwein's Hypermedia Glossary Of Genetic Terms
http://www.fondazioneagarini.org
Fondazione Agarini, an Italian organization in co-operation with Johns
Hopkins, promoting research in neurosciences, genetics, and neuroregeneration.
In Italian and English.