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
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
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
Abetalipoproteinemia Article describes abetalipoproteinemia, its diagnosis, and treatment. http://rarediseases.about.com/cs/abetalipoproteinem/a/072601.htm
Extractions: 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); Sign Up Now for the Rare / Orphan Diseases newsletter! 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')
Abetalipoproteinemia abetalipoproteinemia Direct access to data http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Abetalipoproteinemia Links to information and resources for abetalipoproteinemia, also known asBassenKornzweig syndrome. http://rarediseases.about.com/cs/abetalipoproteinem/
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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
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
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
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
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
Abetalipoproteinemia Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/abetalipoproteinemia.html
Extractions: 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 ( Clinical signs Update : 04/09/2005 Orphanet database access
Abetalipoproteinemia Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/PT/abetalipoproteinemia.html
Extractions: 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 ( Hereditariedade autossómica recessiva Má absorção/diarreia crónica Alterações pigmentares periféricas da retina Arreflexia/hiporreflexia Doença do movimento Hipotonia Perda de visão-grave
Extractions: 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