Fucosidosis

Genetic and Rare Diseases Information Center (GARD)

Alpha-l-fucosidase deficiency
Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues

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Fucosidosis
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For more information about Fucosidosis click on the boxes below:

More Detailed Information	NLM Gateway	Support Groups	Clinical Trials & Research

General \| Newborn Screening
More Detailed Information (Found 3 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates General The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fucosidosis. Click on the link to go to OMIM and review these resources. PubMed is a searchable database of medical literature and lists journal articles that discuss Fucosidosis. Click on the link to view a sample search on this topic. Newborn Screening Meikle, et al. Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics 2004;114:909-916.

General | Newborn Screening

More Detailed Information (Found 3 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

General
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fucosidosis. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fucosidosis. Click on the link to view a sample search on this topic.
Newborn Screening
- Meikle, et al. Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics 2004;114:909-916.

NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

- NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

Umbrella Organizations \| Disease-Specific Organizations \| Live Chat/E-mail Lists \| Parent Matching Organizations
Support Groups (Found 8 resources) Groups providing a wide range of services, supportive resources, and information Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Disease-Specific Organizations Society for Mucopolysaccharide (MPS) Diseases MPS House Repton Place White Lion Road Amersham Buckinghamshire United Kingdom HP7 9LP Phone: (+44) 0845 389 9901 E-mail: mps@mpssociety.co.uk Web site: http://www.mpssociety.co.uk National MPS Society 4220 NC Hwy 55, Ste.140 Durham, NC 27713 Toll-free: 877-MPS-1001 Phone: 919-806-0101 Fax: 919-806-2055 Email: info@mpssociety.org Web site: http://www.mpssociety.org Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society) P.O. Box 30034, RPO Parkgate North Vancouver, BC V7H 2Y8 Canada Telephone: 604-924-5130 Fax: 604-924-5131 Toll-Free (within Canada): 1-800-667-1846 E-mail:kirsten@mpssociety.ca Web site: http://www.mpssociety.ca Live Chat/E-mail Lists The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more. Parent Matching Organizations Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/

Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations

Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Disease-Specific Organizations
- Society for Mucopolysaccharide (MPS) Diseases
  MPS House Repton Place White Lion Road
  Amersham Buckinghamshire
  United Kingdom HP7 9LP
  Phone: (+44) 0845 389 9901
  E-mail: mps@mpssociety.co.uk
  Web site: http://www.mpssociety.co.uk
- National MPS Society
  4220 NC Hwy 55, Ste.140
  Durham, NC 27713
  Toll-free: 877-MPS-1001
  Phone: 919-806-0101
  Fax: 919-806-2055
  Email: info@mpssociety.org
  Web site: http://www.mpssociety.org
- Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
  P.O. Box 30034, RPO Parkgate
  North Vancouver, BC V7H 2Y8
  Canada
  Telephone: 604-924-5130
  Fax: 604-924-5131
  Toll-Free (within Canada): 1-800-667-1846
  E-mail:kirsten@mpssociety.ca
  Web site: http://www.mpssociety.ca
Live Chat/E-mail Lists
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Parent Matching Organizations
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/


Clinical Trials & Research (Found 1 resource) Resources where you may find research studies and clinical trials ClinicalTrials.gov lists trials that are studying or have studied Fucosidosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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