Rare Disease Resources

Brave Community provides a variety of resources and publication information that may be helpful in your pursuit for information about certain rare diseases. Remember that the best guidance on your disease and how to manage your disease comes from your doctors and their staff. You should talk to the medical professionals involved in your care to ensure that you understand the information you are reading and help decide what it may or may not mean for you.

Resources

National Institute of Neurological Disorders and Stroke

National Institutes of Health (NIH) Neurological Institute
  • Phone: 800.352.9424
» www.ninds.nih.gov

Genetic Alliance

  • Phone: 202-966-5557
» www.geneticalliance.org

National Organization for Rare Disorders (NORD)

  • Phone: 202-966-5557
» www.rarediseases.org

Children’s Rare Disease Network

  • Phone: 949-305-8656
» www.crdnetwork.org
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Publications

Here is a short bibliography of a few examples of published articles about Fabry disease to read or to share with your doctor. You can use the Searching Medical Literature tutorial to learn how to search for the latest articles in medical journals, and be sure to ask your doctor for any new publications. This list is not a complete list of available published information about these topics.

Fabry:
Desnick RJ, Astrin KH, Bishop DF. Fabry disease: molecular genetics of the inherited nephropathy. Adv Nephrol Necker Hosp. 1989;18:113-27. [PubMed ID 2564247]

Grünfeld JP, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J Inherit Metab Dis. 2001;24(suppl 2):71-74. [PubMed ID 11758682]

Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis. 2001;24(suppl 2):75-83. [PubMed ID 11758683]

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Searching Medical Literature

The best guidance on your disease and how to manage your disease comes from your doctors and their staff. While there are a number of sources of medical literature available, before you make any medical decisions, you should talk to the medical professionals involved in your care to ensure that you understand the information you are reading and help decide what it may or may not mean for you.

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