Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Scott, B. B. Articles by Losowsky, M. S. BB Scott, JP Miller and MS Losowsky A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are
Gut -- Table Of Contents (20 [2]) Hypobetalipoproteinaemiaa variant of the bassenkornzweig syndrome BB Scott, JP Miller, and MS Losowsky Gut 1979; 20 163-168. Abstract http://gut.bmjjournals.com/content/vol20/issue2/
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Acanthocytosis Synonyms. bassenkornzweig syndrome; Low-Density Beta Lipoprotein Deficiency. Disorder Subdivisions. None. General Discussion. Acanthocytosis is a digestive http://www.bchealthguide.org/kbase/nord/nord445.htm
Extractions: It is possible that the main title of the report Acanthocytosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Acanthocytosis is a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma. Chylomicrons are very small fatty droplets that are covered with a beta-lipoprotein and perform an essential function in fat transport in the blood and, thus, in fat metabolism. The absense of VLDL and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). Other symptoms include abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia). CLIMB (Children Living with Inherited Metabolic Diseases)
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Last Updated: February 20, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: classic adult neuroacanthocytosis disorder, neuroacanthocytosis variant, NA, Bassen-Kornzweig syndrome AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Kenneth Gross, MD , Founder, Owner, Fusion Clinical Multimedia, Inc; Adjunct Professor, Center for Psychological Studies, Program in Psychopharmacology, Nova Southeastern University, Fort Lauderdale, Florida Coauthor(s): Nicholas Lorenzo, MD , Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants Kenneth Gross, MD, is a member of the following medical societies: American Academy of Neurology Editor(s): Roberta J Seidman, MD
Extractions: 3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Back to main Health Information page Definition: Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Causes And Risk: Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins ( VLDL ), and chylomicrons (small molecules of fat in the blood).
Abetalipoproteinemia - Descipher Health bassen-kornzweig syndrome, low-density lipoid deficiency, LDL deficiency(Redirected from bassenkornzweig syndrome). http://www.descipher.com/health/info/Bassen-Kornzweig_syndrome
Geneticalliance.org Acanthocytosis Also known as bassenkornzweig syndrome Support Groups. 0 organization(s) found. Articles (0) Arts and Literature (0) http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t
Geneticalliance.org Acanthocytosis Also known as bassenkornzweig syndrome Treatment eMedicine - Acanthocytosis MEDLINEplus - bassen-kornzweig syndrome http://www.geneticalliance.org/ws_display.asp?filter=resources_by_disease&keywor
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Resource Library Find Information On Bassen-Kornzweig Syndrome At Find information on bassenkornzweig syndrome at MerckSource. Learn more about bassen-kornzweig syndrome, bassen-kornzweig syndrome is a rare, http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns
Log In Problems bassenkornzweig syndrome (or Abetalipoproteinemia). Features of this very rare autosomal recessive syndrome include fat malabsorption with steatorrhea and http://www.medscape.com/viewarticle/501761_8
Food & Nutrition Information The cardiac lesions in bassenkornzweig syndrome. Report of a case, with autopsy bassen-kornzweig syndrome Deficiency of serum beta-lipoprotein. http://www.healthyeatingclub.org/APJCN/Volume1/vol1.4/levinson.htm
Retina Australia In Usher Syndrome Type 1, there is severe damage to the cochlea from a very bassenkornzweig syndrome. - RP with progressive neurological problems. http://www.retinaaustralia.com.au/AssocConditions.htm
Extractions: USHER SYNDROME This genetic condition causes hearing loss from birth and progressive loss of sight due to retinitis pigmentosa (RP), which causes degeneration of the retina. Often the first symptom of RP is night blindness, followed by narrowing side vision leading to what is called "tunnel vision". In Usher Syndrome Type 1, there is severe damage to the cochlea from a very early age and therefore the child has severe deafness from birth. The child usually develops problems with night vision and tunnel vision due to RP in the first 10 years of life. In Usher Syndrome Type 2, the hearing loss is more variable, ranging from mild to severe. Symptoms of RP usually develop from late adolescence to late twenties. Communication is enhanced in these people with hearing aids and lip reading. LARA'S STORY Lara has been diagnosed with Usher Syndrome Type 2. She is currently Co-ordinator of the Youth Group for Retina Australia Queensland Lara is currently studying meetings and events management, and is planning a career in media, focusing on motivational speaking.
Extractions: helpful? yes no The term Neuroacanthocytosis refers to a group of rare inherited disorders displaying abnormalities of the nervous system, often chorea (involuntary movements), and acanthocytosis (the presence of abnormal red blood cells that on examination can be seen to have a spur-like projection). The disorders in the Neuroacanthocytosis group are: Neuroacanthocytosis Choreoacanthocytosis : Chorea-acanthocytosis; Levine-Critchley syndrome; ChAc In 1967 Critchley et all described a rare inherited condition of neurological abnormalities in an adult and in 1970 Levine et all described a similar condition in a family of 19 persons over 4 generations, the majority of whom had Acanthocytosis - the typical abnormal red blood cell with spur like projections found in Neuroacanthocytosis. The condition affects both males and females, with a slight predominance in males, and all ethnic backgrounds. Reports of about 200-250 individuals have appeared in medical literature. Mutations in the VPS13A gene on chromosome 9q21 are thought to cause Chorea-acanthocytosis.
Extractions: printer friendly home how we can help medical information ... how you can help Please use the index below to access the condition you require information on. It may take longer to find what you are looking for this way compared with our "search this site" facility in the navigator on the left but we try to point you in the most appropriate direction using this index and therefore the results should be better. For speed, this index has been split into separate alphabetical files: numbers 0-9 A B C ... Z Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. BBS see Bardet-Biedl syndrome
Inheritance Of Retinal Degeneration - Page 7 bassenkornzweig syndrome is an autosomal recessive disease. Best Disease (Vitelliform Dystrophy) This disease is characterized by a lesion in the macula, http://www.jwen.com/rp/wffb/ffb7.html
Extractions: When only one member of a family has a retinal degeneration, as we see in about 40 percent of families affected by RP, it is impossible to determine how the disease is inherited in that family. Nevertheless, to assess the risk of retinal degeneration occurring in other family members, it must be assumed that the disease is following one of the known inheritance patterns. Isolated cases of retinal degeneration most often represent autosomal recessive disease. Even though carrier parents have a 25 percent chance of having an affected child, there is still a 75 percent chance of having an unaffected child. So, it is often the case that there is only one child with a retinal degeneraUon in the family. Rarely, isolated cases of retinal degenerations represent new gene mutations. Retinal degenerations are caused by mutated genes that can pass through generations of a family. Occasionally, even when neither parent is affected nor carries an altered gene, one of the genes, usually in the egg or sperm, changes spontaneously from normal and becomes an altered gene, causing the disease in the child. New gene mutations most often represent the start of an autosomal dominant retinal degeneration, or when a ma is affected, either an autosomal dominant or X-linked retinal degeneration. Because a X-linked carrier female often shows mild effects of the altered gene, any mother of a male with an isolated case of retinal degeneration should be examined by an ophthalmologist to determine if she is a carrier.
Definitions Of Genetic Disorders-B. bassenkornzweig syndrome abl.htm Batten Disease batten.htm Batten-Mayou Syndrome batten.htm Batten-Spielmeyer-Vogt s Disease batten.htm http://www.icomm.ca/geneinfo/def-b.htm
Abetalipoproteinemia Also known as bassenkornzweig syndrome. Abetalipoproteinemia Article describes the disorder, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/cs/abetalipoproteinem/
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Abetalipoproteinemia Abetalipoproteinemia (also known as bassenkornzweig syndrome) is an inherited disorder that affects how fats are made and used in the body. 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')
