Directory of Homocystinuria Resources

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Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine.

Resources in This Category

• MedlinePlus Medical Encyclopedia: Homocystinuria

  https://medlineplus.gov/ency/article/001199.htm
  Learn about this condition, the causes, symptoms, treatment, prognosis, and complications.

• NORD: Homocystinuria

  http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Homocystinuria
  Offers alternative names, a general discussion and further resources.

• OMIM: Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

  http://www.ncbi.nlm.nih.gov/omim/236200
  Technical article from Online Mendelian Inheritance in Man.

• Patient: Homocystinuria

  http://patient.info/doctor/homocystinuria
  Factsheet on this metabolic disorder, its description, pathophysiology, epidemiology, clinical findings, presentation, investigations, complications, management, prognosis and differential diagnosis.

Related Categories

• Home > Health > Conditions and Diseases > Musculoskeletal Disorders > Connective Tissue
• Home > Health > Conditions and Diseases > Genetic Disorders
• Home > Health > Conditions and Diseases > Rare Disorders

 

Home > Health > Conditions and Diseases > Neurological Disorders > Brain Diseases > Metabolic > Homocystinuria

 

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