Nutritional and Metabolic Disorders
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- Fabry Support and Information Group
- Information about the group and this disease. Join the group free of charge and receive a newsletter.
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- Gaucher Care
- Find information about gaucher disease for people living with it, their friends and families, and health care professionals.
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- Gaucher Disease
- Information for patients, relatives, doctors and researchers from an independent charity. Over two hundred pages for use by patients and doctors.
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- University Regional Gaucher Treatment Center
- Provides clinical evaluations for the diagnosis and treatment of patients with this disease. Information about the disease as well as the facility.
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- Wikipedia: Ketosis
- Ecyclopedia article on this serious condition that occurs when there are raised levels of chemicals, called ketones, in the blood.
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- Patient UK: MCAD Deficiency
- Factsheet on this autosomal recessive inherited disorder of fatty acid metabolism including its pathophysiology, epidemiology, presentation, investigations, management and prognosis.
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- Wikipedia: Medium-chain Acyl-coenzyme A Dehydrogenase Deficiency
- Encyclopedia article on this metabolic disorder caused by the failure of certain enzymes invoved in the breakdown of fatty acids.
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- Ara Parseghian Medical Research Foundation
- About this foundation whose goal is to find a cure for the devastating Niemann-Pick Type C disease.
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- Jacob's Reach
- Niemann-Pick Disease Type C public awareness campaign in honor of Jacob Quinn DeMeis. Includes information on the disease and on Jacob's short life.
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- National Niemann-Pick Disease Foundation
- Provides in depth education and support for patients and families. Also information about the foundation itself.
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- Patient UK: Refsum’s Disease
- Factsheet on this disorder of fatty acid oxidation, its description, pathogenesis, presentation, other features, differential diagnosis, investigations, management, complications and prognosis.
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- Wikipedia: Sitosterolemia
- Encyclopedia article on this rare autosomal inherited lipid metabolic disorder. Includes epidemiology, signs and symptoms, pathogenesis and treatment.
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- Tangier Disease by Jackie Newman
- An article about this rare disease, its history, characteristics of the disease and the treatments.
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- National Tay-Sachs and Allied Diseases Association
- An organization offering support and programs geared to families affected by Tay-Sachs Disease and over 40 other fatal degenerative genetic disorders.
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- Project Shui
- A Bar Mitzvah boy's web-based project to raise funds for a gene therapy cure for Tay-Sachs disease.
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- eMedTV: Tay-Sachs Disease
- Offers medically reviewed information on the symptoms, causes, diagnostic tests and current treatments.
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- MedicineNet.com : Alkaptonuria
- An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment.