Rare Disorders


 

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See Also:   Agnosia
Aicardi_Syndrome
Barth_Syndrome
Cerebrocostomandibular_Syndrome
Cleidocranial_Dysplasia
Cystinosis
Degos
Erythromelalgia
Jacobsen_Syndrome
Melorheostosis
Moyamoya
Ollier_Disease
Pemphigoid
Pemphigus
Phenylketonuria
Pierre_Robin_Syndrome
Progeria
Tyrosinemia
VATER_Syndrome
Wegener's_Granulomatosis


1.
Tetrahydrobiopterin  (site info)
Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.
http://www.bh4.org
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2.
Contact a Family  (site info)
Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK.
http://www.cafamily.org.uk
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3.
Cherubs  (site info)
A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia.
http://www.cherubs-cdh.org
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4.
Kindler Syndrome  (site info)
An article and case study of this rare disease. Includes links.
http://digilander.libero.it/camdic/KINDLER.html
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5.
Fibrosing Mediastinitis  (site info)
The least common, but most severe, late complication of histoplasmosis. Educational and research information. Includes interviews, patient stories, and a community forum.
http://www.fibrosingmediastinitis.com
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