Niemann-Pick disease type C: from bench to bedside
Article Abstract:
Niemann-Pick disease type C is a neurological disorder caused by an accumulation of cholesterol in various tissues. It is a hereditary disease that has been linked to chromosome 18. The early form can occur in infancy and is characterized by jaundice and neurologic symptoms. This form progresses very quickly. The late form progresses more slowly. It can be diagnosed by measuring the esterification of cholesterol in tissue samples. This process is deficient in patients with Niemann-Pick C disease. There is no cure for the disease.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1996
User Contributions:
Comment about this article or add new information about this topic:
Clinical Features of and Recent Advances in Therapy for Fabry Disease
Article Abstract:
Intravenous infusions of alpha-galactosidase A is an effective treatment for patients with Fabry disease. This enzyme is deficient in these patients, causing painful nerve disease, kidney disease, cardiovascular and cerebrovascular disease and early death. Gene therapy may be able to correct the disorder in the future.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2000
User Contributions:
Comment about this article or add new information about this topic:
Enzyme Replacement Therapy in Fabry Disease: A Randomized Controlled Trial
Article Abstract:
Bi-weekly intravenous infusions of the enzyme alpha-galactosidase A may be an effective treatment for Fabry disease, according to a study of 26 patients. Fabry disease is caused by a deficiency of this enzyme, which causes pain, kidney disease, and cardiovascular disease.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2001
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: Panic Disorder--It's Real and It's Treatable. Cognitive Behavioral Therapy for Treatment of Chronic Primary Insomnia: A Randomized Controlled Trial
- Abstracts: Pharmacologic Treatment of the Irritable Bowel Syndrome: A Systematic Review of Randomized, Controlled Trials
- Abstracts: Fetal deaths in the United States, 1997 vs 1991. Pacifier Use, Early Weaning, and Cry/Fuss Behavior: A Randomized Controlled Trial
- Abstracts: The influence of epidural analgesia on cesarean delivery rates: a randomized, prospective clinical trial. The effect of a rapid change in availability of epidural analgesia on the cesarean delivery rate: a meta-analysis
- Abstracts: The Cochrane Collaboration. Reporting standards and the transparency of trials. Vaccines today