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  • Rare Gene Brings Life Without Pain
  • Most U.S. Newborns Now Screened for Genetic Disease


  • Search Results 1� of 59 Web Pages | Next > | Show All | See Categories and Related Topics
    About Cystinosis  External Links Disclaimer Logo
    This document provides information about Cystinosis, a rare disease that primarily affects children and a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs ... Details >
    Cystinosis Research Network
    About Primary Hyperoxaluria  External Links Disclaimer Logo
    Online information for consumers about primary hyperoxaluria, a rare metabolic disease caused by the liver making too much oxalic acid which is excreted in the urine.... Details >
    Oxalosis and Hyperoxaluria Foundation
    About Schwannomatosis  External Links Disclaimer Logo
    This site provides information about the disease and Features of Schwannomatosis.... Details >
    The Children's Tumor Foundation
    Acid Maltase Deficiency Association Home Page   External Links Disclaimer Logo
    The Acid Maltase Deficiency Association, A M D A, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe's Disease.... Details >
    Acid Maltase Deficiency Association
    Ataxia Chapters, Support Groups, and Ambassadors  External Links Disclaimer Logo
    This site provides a database to a comprehensive listing of groups and individuals who meet to discuss Ataxia related issues. ... Details >
    National Ataxia Foundation
    Behcet's Disease Information
    A general overview of Behcet's disease that includes a description and information about treatment, prognosis and research. A list of organizations where users may obtain additional information and se... Details >
    National Institute of Neurological Disorders and Stroke, National Institutes of Health
    Cavernous Malformation Information Page
    This page is a backgrounder on cavernous malformation, a rare disorder of the capillaries and smallest veins in one part of the brain. The disorder occurs when a blood-filled mass resembling a tumor, ... Details >
    National Institute of Neurological Disorders and Stroke, National Institutes of Health
    Characteristics of Fragile X Syndrome   External Links Disclaimer Logo
    This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >
    National Fragile X Foundation
    Congenital Adrenal Hyperplasia (CAH): The Facts You Need To Know  External Links Disclaimer Logo
    This site contains information about the diagnosis, treatment modalities, quick facts and more about Congenital Adrenal Hyperplacia (CAH).... Details >
    National Adrenal Diseases Foundation
    Creutzfeldt-Jakob Disease (CJD)
    Also available in: Spanish
    A general overview of Creutzfeldt-Jakob Disease (CJD) that includes a description and information about treatment, prognosis and research. A list of organizations where users may obtain additional inf... Details >
    National Institute of Neurological Disorders and Stroke, National Institutes of Health
    Organizations
    1� of 26 Orgs | Next > | Show All
    Genetic and Rare Diseases Information Center
    Office of Orphan Products Development, U.S. Food and Drug Administration
    Office of Rare Diseases, National Institutes of Health
    Achromatopsia NetworkExternal Links Disclaimer Logo
    Acid Maltase Deficiency AssociationExternal Links Disclaimer Logo
    Avenues, A National Support Group for Arthrogryposis Multiplex CongentiaExternal Links Disclaimer Logo
    Batten Disease Support and Research AssociationExternal Links Disclaimer Logo
    Cystinosis FoundationExternal Links Disclaimer Logo
    Cystinosis Research NetworkExternal Links Disclaimer Logo
    Dysautonomia FoundationExternal Links Disclaimer Logo

    Database Updated: Sunday, September 21, 2008
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