1. Abetalipoproteinemia a CHORUS notecard document about abetalipoproteinemia. http://chorus.rad.mcw.edu/doc/00432.html

CHORUS Collaborative Hypertext of Radiology Small bowel About CHORUS Search Feedback abetalipoproteinemia rare, autosomal recessive malabsorption of fat progressive neurologic deterioration retinitis pigmentosa In GI tract: thick SB folds "cobblestone" mucosa Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 26 May 2004 Related CHORUS documents: thick small bowel folds adynamic ileus simulating bowel obstruction sprue / celiac disease small bowel obstruction ... intestinal lymphangiectasia Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

2. Abetalipoproteinemia (Bassen Kornzweig Syndrome) abetalipoproteinemia (Bassen Kornzweig Syndrome) abetalipoproteinemia. Abetalipoproteinaemia (BassenKornzweig Syndrome) abetalipoproteinemia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Abetalipoproteinemia abetalipoproteinemia. rare, autosomal recessive; malabsorption of fat. progressiveneurologic deterioration; retinitis pigmentosa. In GI tract http://chorus.rad.mcw.edu/to-go/00432.html

abetalipoproteinemia rare, autosomal recessive malabsorption of fat progressive neurologic deterioration retinitis pigmentosa In GI tract: thick SB folds "cobblestone" mucosa Home Small bowel

4. Abetalipoproteinemia a CHORUS notecard document about abetalipoproteinemia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. OMIM - ABETALIPOPROTEINEMIA; ABL http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200100

6. ABETALIPOPROTEINEMIA abetalipoproteinemia A rare congenital disorder that causes the body to not produce chylomicrons, low density lipoprotein (LDL), and very low http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Entrez PubMed abetalipoproteinemia is an inherited disorder of lipoprotein metabolism. Biochemical and genetic studies show that abetalipoproteinemia is not a defect http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

8. ABETALIPOPROTEINEMIA abetalipoproteinemia A rare congenital disorder that causes the body to not produce chylomicrons, low density lipoprotein (LDL), and very low http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Abetalipoproteinemia Article describes abetalipoproteinemia, its diagnosis, and treatment. http://rarediseases.about.com/cs/abetalipoproteinem/a/072601.htm

var zLb=12; var zIoa1 = new Array('Suggested Reading','Internet links on abetalipoproteinemia','http://rarediseases.about.com/cs/abetalipoproteinem/index.htm'); var zIoa2 = new Array('Elsewhere on the Web','Abetalipoproteinemia discussion group','http://groups.yahoo.com/group/Abetalipoproteinemia/'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Information by Disease Type Metabolic Disorders Abetalipoproteinemia Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Suggested Reading Internet links on abetalipoproteinemia Elsewhere on the Web Abetalipoproteinemia discussion group Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55')

10. Abetalipoproteinemia abetalipoproteinemia Direct access to data http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Abetalipoproteinemia Links to information and resources for abetalipoproteinemia, also known asBassenKornzweig syndrome. http://rarediseases.about.com/cs/abetalipoproteinem/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Abetalipoproteinemia (Chromosome 4) Guide picks An error on Chromosome 4 produces this disorder, in which fats are absorbed but can't be broken down by the body. Also known as Bassen-Kornzweig syndrome. Abetalipoproteinemia Article describes the disorder, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. Abetalipoproteinemia Discussion Group Discussion group for people concerned with the disorder. Requires free registration. Medical College of Wisconsin: Vitamin E Information about Vitamin E (a treatment for abetalipoproteinemia) from the Medical College of Wisconsin. Retinitis Pigmentosa Links to information and support for this vision disorder which affects people with abetalipoproteinemia, from the About.com Guide to Blindness. Topic Index Email to a Friend Our Story Be a Guide ... Patent Info.

12. Abetalipoproteinemia - The Health Beat Medical . Disease . The Health Beat covers abetalipoproteinemia plus Top Health Medical Internet Web Sites, Health, Health Organizations, Health News, Medical http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses abetalipoproteinemia is caused by mutations in the gene for microsomal triglyceridetransfer protein. Absorption of fat is markedly impaired. http://www.merck.com/mrkshared/mmanual/section2/chapter16/16a.jsp

14. Abetalipoproteinemia abetalipoproteinemia Follow Ups Post Followup Forum 2 Posted by Mario from IP 66.98.41.118 on May 28, 2005 at 113743 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Dorlands Medical Dictionary normotriglyceridemic abetalipoproteinemia, a variant of abetalipoproteinemia inwhich apolipoprotein (apo) B48 is present, but apo B-100 is absent; http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

16. Abetalipoproteinemia Caused By Maternal Isodisomy Of Chromosome 4q abetalipoproteinemia Caused by Maternal Isodisomy of Chromosome 4q Containing an Intron 9 Splice Acceptor Mutation in the Microsomal Triglyceride http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Abetalipoproteinemia Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/abetalipoproteinemia.html

Orphanet database access Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low ( <70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 04/09/2005 Orphanet database access

18. HealthCentral - General Encyclopedia - Bassen-Kornzweig Syndrome Complications Calling your health care provider Alternative names abetalipoproteinemia Definition A rare, inherited disease http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Abetalipoproteinemia Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/PT/abetalipoproteinemia.html

Abetalipoproteinemia A abetalipoproteinemia é uma doença autossómica recessiva do metabolismo das lipoproteínas, provocada por mutações numa subunidade da proteína de transferência de trigliceridos microssomal (MTP), cujo gene se localiza no cromossoma 4q22-q24. Esta doença é muito rara. As características clínicas são um síndrome de má-absorção, degenerescência pigmentar da retina e neuropatia atáxica progressiva. Os eritrócitos apresentam uma alteração da forma que é característica e que se designa acantocitose. Os sintomas neurológicos têm uma relação directa com a deficiência de vitamina E (lipossolúvel). O nível de colesterol total é baixo ( <70mg/dL) e os trigliceéridos são praticamente indetectáveis. O perfil das lipoproteínas mostra ausência de lipoproteínas de baixa e muito baixa densidade. *Autor: Dr. F Palau (Outubro 2003)*. Hereditariedade autossómica recessiva Má absorção/diarreia crónica Alterações pigmentares periféricas da retina Arreflexia/hiporreflexia Doença do movimento Hipotonia Perda de visão-grave

20. Abetalipoproteinemia - Definition Of Abetalipoproteinemia By The Free Online Dic Definition of abetalipoproteinemia in the Online Dictionary. Meaning ofabetalipoproteinemia. What does abetalipoproteinemia mean? abetalipoproteinemia http://www.thefreedictionary.com/abetalipoproteinemia

Domain='thefreedictionary.com' word='abetalipoproteinemia' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia abetalipoproteinemia Also found in: Medical Wikipedia 0.03 sec. Page tools Printer friendly Cite / link Email Feedback Thesaurus Legend: Synonyms Related Words Antonyms Noun abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels congenital disease genetic abnormality genetic defect genetic disease ... inherited disorder - a disease or disorder that is inherited genetically hypobetalipoproteinemia - a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body Mentioned in References in classic literature acanthocytosis No references found Dictionary/thesaurus browser Full browser aberration Aberration constant Aberrational Aberuncate ... abet abetalipoproteinemia abetment Abettal abetter abettor ... Aberystwyth Town F.C.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 85    1  | 2  | 3  | 4  | 5  | Next 20