61. Roche Lexikon Medizin (4. Aufl.) - Bassen*-Kornzweig* Syndrom Translate this page Bassen*-Kornzweig* Syndrom. engl. bassen-kornzweig syndrome. Abetalipoproteinämie. Verwandte Themen. Abetalipoproteinämie. Roche http://www.gesundheit.de/roche/ro02500/r3244.html

Bassen*-Kornzweig* Syndrom engl.: Bassen-Kornzweig syndrome Verwandte Themen

62. Free Online ICD9/ICD9CM Codes And Medical Dictionary Basophilia 288.8. Basophilism (corticoadrenal) (Cushing s) (pituitary) (thymic) 255.0. bassenkornzweig syndrome (abetalipoproteinemia) 272.5. Bat ear 744.29. http://icd9cm.chrisendres.com/index.php?action=alphaletter&letter=Bj

63. Massachusetts Eye AndEar Infirmary Berman-Gund Laboratory retinitis pigmentosa is a part Usher syndrome, type I and type II; LaurenceMoon-Bardet-Biedl syndrome; bassen-kornzweig syndrome; http://www.meei.harvard.edu/research/labs/bermang.html

64. Welcome To AJC! s abscess Bartonellosis Bartter’s syndrome Basal cell cancer Basal cell nevus syndrome Basal ganglia dysfunction bassenkornzweig syndrome Bathing trunk http://www.ajc.com/health/healthfd/shared/health/adam/ency/index/diseidxb.html

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65. Health Information Adam Encyclopedia, Basal ganglia dysfunction. Adam Encyclopedia, bassenkornzweig syndrome. Adam Encyclopedia, Bathing trunk nevus. Adam http://www.wregional.com/body.cfm?id=167&action=list&AE_Product_product=ADAMEncy

66. ENLmedical.com: Conditions And Concerns: Medical Encyclopedia Barium enema Barrett s esophagus Bartholin s abscess Bartter s syndrome Basal cell cancer Basal cell nevus syndrome bassenkornzweig syndrome Bathing trunk http://www.enlmedical.com/Encyc/b.html

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67. SearchBug Directory: Health: Conditions_and_Diseases: B Baldness (49) BardetBiedl Syndrome (6) Barth Syndrome (4) Bartonella (9) Basal Ganglia Diseases (29) Basilar Migraine (4) bassen-kornzweig syndrome (3) Batten http://www.searchbug.com/directory.aspx/Health/Conditions_and_Diseases/B/

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68. RP - 7.3. Englisches Begriffssystem Der RP 1.2.2.1. conerod dystrophy (CRD). 1.2.2.2. abetalipoproteinemia, bassen-kornzweig syndrome. 1.2.2.3. gyrate atrophy. 1.2.2.4. Refsum s disease, Refsum-syndrome. http://www.fask.uni-mainz.de/user/feuerstein/rp/rp-7.3-2.html

7.3. Englisches Begriffssystem der RP retinal degenerative disease s, retinal/tapetoretinal degenerations 1.1. acquired forms macular degeneration s through exogenous factors age-related macular degeneration (AMD) 1.2. retinal/tapetoretinal dystrophies, hereditary retinal degenerations 1.2.1. macular dystrophies cystoid macular edema CME ), "wet" form of macular degeneration 1.2.2. retinitis pigmentosa (RP), pigment retinopathy , rod-cone dystrophy (RCD) cone-rod dystrophy (CRD) abetalipoproteinemia Bassen-Kornzweig syndrome 1.2.2.3. gyrate atrophy Refsum's disease Refsum-syndrome Usher's syndrome , Usher-syndrome (US) 1.2.2.5.1. Usher type I (USH1) 1.2.2.5.1.1. Usher type Ia (USH1a) 1.2.2.5.1.2. Usher type Ib (USH1b) 1.2.2.5.1.3. Usher type Ic (USH1C) 1.2.2.5.2. Usher type II (USH2) 1.2.2.5.2.1. Usher type IIa (USH2A) 1.2.2.5.2.2. Usher type IIb (USH2b) 1.2.2.5.3. Usher type III (USH3) 1.2.2.4. other syndromal forms of RP

69. Chromosome Disorders Also known as bassenkornzweig syndrome. Cri-du-chat Syndrome (Chromosome 5) A disorder of Chromosome 5 which results in multiple congenital anomalies. http://rarediseases.about.com/cs/chromosomeproblem/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Types of Diseases Chromosome Disorders Home Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Chromosome Disorders Chromosomes hold the genetic keys to all of the body's functions. There may be errors on any of the body's 23 pairs of chromosomes, such as broken or missing pieces or too many pieces or copies. Links below are grouped by chromosome number. Alphabetical Recent Up a category Abetalipoproteinemia Article describes the disorder, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. Chromosome 9p Network Provides information, guest book, news, and links.

70. Abetalipoproteinemia What is it? 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/library/weekly/aa072601a.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on abetalipoproteinemia Elsewhere on the Web Abetalipoproteinemia discussion group Most Popular The Elephant Man's Bones Reveal Mystery ALD and Lorenzo's Oil Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Christmas Disease Graves' Disease and Research Dystonia and Botox Injections Tourette Syndrome ... Ferraro Fighting Multiple Myeloma Abetalipoproteinemia From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Problem with using fat in the body What is it?

71. Descripteur : Abetalipoproteinemia = ABETALIPOPROTEINEMIE bassen-kornzweig syndrome ; Betalipoprotein Deficiency Disease ; Microsomal http://www.saphirdoc.ch/Thesaurus.htm&numrec=051910535919230

SAPHIR : Accueil Identifiant : Mot de passe : Dossiers Publications OMS (Europe) Bibliographies Index Auteurs Types de document Recherche Simple Expert Revues Recherche rapide Descripteur : Abetalipoproteinemia = ABETALIPOPROTEINEMIE A disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein is deficient or absent in enterocytes. Clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea. Intellectual abilities may also be impaired. (Menkes, Textbook of Child Neurology, 5th ed, p118; Curr Opin Lipidol 1994 Apr;5(2):81-6) C - Diseases : Nutritional and Metabolic Diseases: Metabolic Diseases: Metabolism, Inborn Errors: Lipid Metabolism, Inborn Errors: Hypolipoproteinemia: Abetalipoproteinemia C - Diseases : Congenital, Hereditary, and Neonatal Diseases and Abnormalities: Genetic Diseases, Inborn: Metabolism, Inborn Errors: Lipid Metabolism, Inborn Errors: Hypolipoproteinemia: Abetalipoproteinemia C - Diseases : Hemic and Lymphatic Diseases: Hematologic Diseases: Blood Protein Disorders: Abetalipoproteinemia C - Diseases : Nutritional and Metabolic Diseases: Metabolic Diseases: Metabolism, Inborn Errors: Brain Diseases, Metabolic, Inborn:

72. Retinitis Pigmentosa - Questions retardation. bassenkornzweig syndrome (Abetalipoproteineinemia) RP accompanied by progressive neurological problems. Choroideremia http://www.rpsa.org.za/a34.htm

Is RP associated with other diseases? RP is just one type of group of inherited diseases that cause degeneration of the retina. Other types include rare syndromes that can usually be diagnosed at a Retinal Clinic. They are generally genetic and follow one of the 3 primary inheritance patterns as mentioned in Number 7. Some of these syndromes are:- Bardet-Biedl (Lawrence-Moon) Syndrome: RP possibly accompanied by physical abnormality, obesity, kidney disease and mental retardation. Bassen-Kornzweig Syndrome (Abetalipoproteineinemia): RP accompanied by progressive neurological problems. Choroideremia: This disease has symptoms similar to Retinitis Pigmentosa but degeneration of both the retina and the choroid occur. Gyrate Atrophy: This disease is associated with a deficiency in the enzyme ornithine Aminotransferase. Myopia, night blindness, cataracts and loss of peripheral vision occur. Leber Congenital Amaurosis: This is characterised by severe visual impairment from birth or very early childhood. Refsum Syndrome: This is a complex disease. Hearing loss, neurological problems, dry or flaky skin can accompany RP. Patients also have oddly shaped red blood cells.

73. ATAXIA TELANGIECTASIA bassenkornzweig syndrome is another interesting disease that can cause ataxia -and this again is kind of related to something Marvin Ament told you speaking http://www.heartlink.ur.ru/med/10.htm

ATAXIA TELANGIECTASIA

74. B In Health > Conditions And Diseases 19); Basilar Migraine@ (4); bassenkornzweig syndrome@ (3); Batten Disease@ (7); Beckwith-Wiedemann Syndrome@ (9); Behcet s Syndrome@ (5 http://ilectric.com/glance/Health/Conditions_and_Diseases/B/

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75. Book Review The book is organized alphabetically by topic headings, starting and ending with a syndrome – abetalipoproteinemia (bassenkornzweig syndrome) as the first http://www.cmj.hr/index.php?P=1248

76. NIH Guide: THE HEREDITARY ATAXIAS INCLUDING MACHADO-JOSEPH DISEASE telangiectasia, hereditary spastic paraplegia, RoussyLevy and Marinesco-Sjogren syndrome, abetalipoproteinemia (bassen-kornzweig syndrome), Refsum s disease http://grants.nih.gov/grants/guide/pa-files/PA-92-048.html

Return to 1992 Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

77. Classification Of Leukodystrophy And Leukoencephaloencephalopathy Abetalipoproteinemia (bassenkornzweig syndrome). Mutation of alpha-tocopherol transport protein (alpha-TTP) (eg, Ataxia with vitamin E deficiency (AVED). http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNE2DD01.htm

Classification of Leukodystrophy and Leukoencephaloencephalopathy NeuroLearn NeuroHelp Leukodystrophy Definition Leukodystrophy is an umbrellar term that include diseases featured by defective formation and maintenance of myelin. The term leukodystrophy is usually reserved for disorders, often of metabolic origin, characterized by failure in maintenance of myelin. It is, however, a morphological term and not associated with a specific pathologic process or etiology. Leukoencephaly: Diseases of the brain affecting predominantly or exclusively white matter of the brain. Leukodystrophy: Leukoencephalopathy due to defective formation and maintenance of myelin in infants and children. Classification Leukodystrophies Head X-linked leukodystrophy Adrenoleukodystrophy Classic type Adrenomyeloneuropathy Pelizaeus-Merzbacher disease (sudanophilic leukodystrophy) Autosomal recessive Globoid cell leukodystrophy (Krabbe disease) Metachromatic leukodystrophy Canavan's disease (spongy degeneration of the brain) Cockayne's syndrome (probably autosomal recessive) Aicardi-Goutières syndrome Pattern of inheritance unknown Alexander’s disease Leukoencephalopath ies Head Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy) Binswanger's disease (subcortical arteriosclerotic encephalopathy) Disseminated necrotizing leukoencephalopathy

78. Wernicke's Encephalopathy: Features degeneration. The spinocerebellar degeneration can occur as a defect in abetalipoproteins as occurs in bassenkornzweig syndrome. This http://www.rashaduniversity.com/mrashad/werenfeat.html

Vitamin B1 (Thiamine) deficiency has been linked to the neurological syndrome of Wernicke's encephalopathy. This condition, although often associated with alcoholism, is a true nutritional deficiency causing neuropathological lesions in areas such as the thalamus, mammilliary bodies, and the periaqueductal areas. A polyneuropathy has also been linked to Vitamin B1 deficiency, especially in alcoholism. This deficiency at least plays a role in the development of this disease along with the possible neurotoxic role of alcohol. Niacin deficiency has been linked to pellagra. This condition, now quite rare, consists of nausea with vomiting, diarrhea, dermatitis, and cognitive decline such as irritability and memory loss. Vitamin B6 (pyridoxine) deficiency and excess has been associated with neurological disease. Both lead to a distal symmetrical polyneuropathy. A deficiency of B6 is commonly found in patient's taking INH-an anti-tuberculosis drug. INH inhibit's pyridoxine phosphorylation thereby decreasing the concentration of the active compound-pyridoxal phosphate. Excessive use of B6 leads to an excess of pyridoxine that competes with pyridoxal phosphate for binding sites on the enzyme.

79. Product Abstract: Vitamin E (Alpha Tocopherol) ataxia, areflexia, and proprioceptive and vibratory sensory loss, has also been observed in abetalipoproteinemia (bassenkornzweig syndrome), cystic fibrosis http://www.lef.org/prod_hp/abstracts/php-ab426d.html

var WebSiteBaseURL = "http://www.lef.org/prod_hp/abstracts/php-ab426d.html" translation by SYSTRAN MEMBERSHIP PRODUCTS MAGAZINE ... CHECKOUT VITAMIN E (ALPHA TOCOPHEROL) Survival in patients with amyotrophic lateral sclerosis, treated with an array of antioxidants. J Neurol Sci (NETHERLANDS) Aug 1996, 139 Suppl p99-103 Use and safety of elevated dosages of vitamin E in infants and children. Int J Vitam Nutr Res Suppl (CANADA) 1989, 30 p69-80 Vitamin E and the nervous system. Crit Rev Neurobiol (UNITED STATES) 1987, 3 (1) There is increasing evidence that vitamin E is essential for normal neurological function. In abetalipoproteinemia, which is the most severe deficiency state known in man, development of the associated spinocerebellar syndrome can be prevented by early vitamin E therapy. A neurological disorder similar to that seen in abetalipoproteinemia, comprising progressive ataxia, hyporeflexia, and proprioceptive loss, has been described in children and adults with chronic fat malabsorption and vitamin E deficiency. The neuropathological changes in such patients resemble those seen in vitamin E-deficient monkeys. Recent reports suggest that spinocerebellar degeneration may be caused by a selective defect of vitamin E absorption without other evidence of gastrointestinal disease. Clinical uses of vitamin E.

80. Bassen-Kornzweig (syndrome De) http://www.vulgaris-medical.net/textb/bassenko.htm

Bassen-Kornzweig (syndrome de) Elle se manifeste chez le nourrisson par : un retard de croissance un aspect anormal des globules rouges (acanthocytose) Son pronostic est grave.

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