Familial isolated vitamin E deficiency

Revision as of 20:02, 19 July 2013 by Rim Halaby (talk | contribs) (Created page with "{{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = 30633 | ICD10 = {{ICD10|Group|Major|minor|LinkGroup|...")
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to: navigation, search
Familial isolated vitamin E deficiency
ICD-10 GroupMajor.minor
ICD-9 xxx
OMIM 277460 600415
DiseasesDB 30633

WikiDoc Resources for Familial isolated vitamin E deficiency

Articles

Most recent articles on Familial isolated vitamin E deficiency

Most cited articles on Familial isolated vitamin E deficiency

Review articles on Familial isolated vitamin E deficiency

Articles on Familial isolated vitamin E deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Familial isolated vitamin E deficiency

Images of Familial isolated vitamin E deficiency

Photos of Familial isolated vitamin E deficiency

Podcasts & MP3s on Familial isolated vitamin E deficiency

Videos on Familial isolated vitamin E deficiency

Evidence Based Medicine

Cochrane Collaboration on Familial isolated vitamin E deficiency

Bandolier on Familial isolated vitamin E deficiency

TRIP on Familial isolated vitamin E deficiency

Clinical Trials

Ongoing Trials on Familial isolated vitamin E deficiency at Clinical Trials.gov

Trial results on Familial isolated vitamin E deficiency

Clinical Trials on Familial isolated vitamin E deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Familial isolated vitamin E deficiency

NICE Guidance on Familial isolated vitamin E deficiency

NHS PRODIGY Guidance

FDA on Familial isolated vitamin E deficiency

CDC on Familial isolated vitamin E deficiency

Books

Books on Familial isolated vitamin E deficiency

News

Familial isolated vitamin E deficiency in the news

Be alerted to news on Familial isolated vitamin E deficiency

News trends on Familial isolated vitamin E deficiency

Commentary

Blogs on Familial isolated vitamin E deficiency

Definitions

Definitions of Familial isolated vitamin E deficiency

Patient Resources / Community

Patient resources on Familial isolated vitamin E deficiency

Discussion groups on Familial isolated vitamin E deficiency

Patient Handouts on Familial isolated vitamin E deficiency

Directions to Hospitals Treating Familial isolated vitamin E deficiency

Risk calculators and risk factors for Familial isolated vitamin E deficiency

Healthcare Provider Resources

Symptoms of Familial isolated vitamin E deficiency

Causes & Risk Factors for Familial isolated vitamin E deficiency

Diagnostic studies for Familial isolated vitamin E deficiency

Treatment of Familial isolated vitamin E deficiency

Continuing Medical Education (CME)

CME Programs on Familial isolated vitamin E deficiency

International

Familial isolated vitamin E deficiency en Espanol

Familial isolated vitamin E deficiency en Francais

Business

Familial isolated vitamin E deficiency in the Marketplace

Patents on Familial isolated vitamin E deficiency

Experimental / Informatics

List of terms related to Familial isolated vitamin E deficiency


Overview

Familial Isolated Vitamin E Deficiency is a rare autosomal recessive[1] neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia.

Cause

Familial Isolated Vitamin E Deficiency is caused by mutations in the gene for a-tocopherol transfer protein.[2]

Familial isolated vitamin E deficiency has an autosomal recessive pattern of inheritance.

External Links

References

  1. Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F (1995 May). "Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families" (Free full text). American journal of human genetics. 56 (5): 1116–24. ISSN 0002-9297. PMC 1801469. PMID 7726167. Unknown parameter |month= ignored (help); Check date values in: |date= (help)
  2. Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S (2002). "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia" (Free full text). Archives of neurology. 59 (12): 1952–53. doi:10.1001/archneur.59.12.1952. ISSN 0003-9942. PMID 12470185. Unknown parameter |month= ignored (help)



Linked-in.jpg