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         Betalipoprotein Deficiency Disease:     more detail

61. Anales De Pediatría: Texto Completo: Hipobetalipoproteinemia Familiar
Translate this page On having no betalipoprotein A syndrome comprising abetalipoproteinemia Familial lipoprotein deficiency. The Metabolic Basis of Inherited disease.
http://db.doyma.es/cgi-bin/wdbcgi.exe/doyma/mrevista.fulltext?pident=13048082

62. Delv.co.uk: Bells Palsy Websites In The UK
For example, a calcium deficiency will result in Osteoporosis Benign Prostatic Hyperplasia Berger s disease Beriberi Beryllium disease betalipoprotein
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document.cookie="metasearch=1749055498.20480.0000"; Methylcobalamin - Vitamin B12 Methylcobalamin is considered to be the most effective form of Vitamin B12. Used for Bell's palsy, pernicious anaemia and all B12 deficiencies. Buy at Vitamin UK. sponsored by http://www.vitaminuk.com (Overture) Bells Compare Prices at 40,000 Stores. Spring Savings at BizRate.com! sponsored by http://BizRate.com/ (MetaSearch Picks) Buy CDs: Bells Kelkoo is the unbiased shopping search engine that compares prices from hundreds of UK shopping sites to help you find great deals available online. sponsored by http://www.kelkoo.co.uk (Overture) Discount Bells New and used for Sale. affiliate Check out the deals now! sponsored by http://www.eBay.com/ (MetaSearch Picks) Bells, Gordons and Smirnoff aT Oddbins A great range of spirits from around the world at Oddbins. sponsored by http://www.oddbins.com (Overture) Biliary Atresia
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63. Malnutrition, Protein-calorie » Medical Diagnosis
diseaserelated malnutrition is common, often not Impaired betalipoprotein synthesis causes fatty liver hormones are impaired in severe protein deficiency.
http://www.medfamily.org/diagnosis/M/diagnosis-terms-Malnutrition,_protein_calor
Medical Diagnosis

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B

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Malnutrition, protein-calorie
Malnutrition, protein-calorie
OVERVIEW:
Protein-calorie malnutrition (PCM) is present when sufficient energy and/or protein is not available to meet metabolic demands, leading to impairment in normal physiologic processes. PCM is classified according to degree of severity and by calculating the actual weight as a percentage of expected weight for height/length, using international standards (normal: 90-110%).
System(s) affected: Gastrointestinal, Endocrine/Metabolic, Musculoskeletal, Nervous, Hemic/Lymphatic/Immunologic
Genetics: N/A
Incidence/Prevalence in USA: Institutionalized elderly, hospital patients and children of the poor have a significant prevalence
Predominant age: Infants and younger children (age 1-2) are more susceptible to PCM. However, PCM may occur at all ages.
Predominant sex: Male = Female
SIGNS AND SYMPTOMS:
CAUSES:
RISK FACTORS:
DIAGNOSIS
DIFFERENTIAL DIAGNOSIS:
LABORATORY:
Drugs that may alter lab results: N/A
Disorders that may alter lab results: N/A
PATHOLOGICAL FINDINGS:
Muscle wasting and reduction in muscle mass due to gluconeogenesis. Mummified appearance. No edema. Fat depots reduced. Loss of subcutaneous fat.

64. EMedicine - Acanthocytosis : Article By Frank E Shafer, MD
red cell membranes in abetalipoproteinemia deficiency of lecithin from a rare genetic disease clinical conference JK On having no betalipoprotein a syndrome
http://www.emedicine.com/ped/topic2.htm
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Acanthocytosis
Last Updated: November 18, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: acanthocytes, red blood cell acanthocytes, abetalipoproteinemia, Bassen-Kornzweig syndrome, atypical retinitis pigmentosa, progressive ataxic neurologic disorder, celiac disease, spur cell hemolytic anemia, spur cell anemia of severe liver disease, severe active hepatitis, cholestasis, neonatal hepatitis, cardiac cirrhosis, metastatic liver disease, hemochromatosis, Wilson disease, alcoholic cirrhosis, disorders of lipid metabolism, apolipoprotein B, apo B, cholesterol loading, unesterified cholesterol AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography
Author: Frank E Shafer, MD

65. Neurology -- Correspondence For Houlden Et Al., 61 (10) 1423-1426
density lipoprotein (LDL, or “betalipoprotein”) and in and Huntington´s diseaselike 2 further uncoupled lipoprotein deficiency from neuroacanthocytosis
http://www.neurology.org/cgi/eletters/61/10/1423
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H. Houlden, S. Lincoln, M. Farrer, P.G. Cleland, J. Hardy, and R.W. Orrell
Compound heterozygous mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Neurology 2003; 61: 1423-1426 [Abstract] [Full text]
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Reply to Danek et al
Richard W Orrell, Henry Houlden, Jim S Owen (18 February 2004)
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Adrian Danek, MD, Robert A. Hegele, MD, FRCP, FACP (18 February 2004)
Reply to Danek et al 18 February 2004 Richard W Orrell

66. Karger Publishers
polygenetic effects on cholesterol, betalipoprotein and triglyceride of alpha 1antitrypsin deficiency Effects of 2 allele for late onset Alzheimer disease.
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

67. Mencke, Thomas - Bibliographie A
inherited leukocyte adhesion deficiency syndromes. Journal leukocyte adhesion molecules in human disease . of cholesterol, betalipoprotein, and triglycerides
http://edoc.hu-berlin.de/dissertationen/medizin/mencke-thomas/HTML/mencke-bib.ht
Mencke, Thomas:
Titelseite
Bibliographie Anhang Danksagung ... Lebenslauf Seite 85
Bibliographie A. Literaturverzeichnis
1. Abbassi O. , Kishimoto T. K. McIntire , L. V. , Anderson D. C. , Smith C. W. : "E-Selectin supports neutrophil rolling in vitro under conditions of flow." Journal of Clinical Investigation 2. Andrian U. H. von Berger E. M. , , Ramezani L. , Chambers J. D. Ochs H. D. , , Harlan J. M. , Paulson J. C. , Etzioni A. , Arfors K. E. : "In vivo behavior of neutrophils from two patients with distinct inherited leukocyte adhesion deficiency syndromes." Journal of Clinical Investigation 3. Arbustini E. , Grasso M. , Fasani R. , Klersy C. , Diegoli M. , Porcu E. , Banchieri N. , Fortina P. , Danesino C. , SpecchiaG. : "Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction" . British Heart Journal 4. Assmann G. : "Nationale Cholesterin-Initiative" .

68. Circulation -- Stengård Et Al. 91 (2): 265
and covariability of cholesterol, betalipoprotein, and triglycerides risk of coronary artery disease results of hyperlipoproteinemia type III deficiency of a
http://circ.ahajournals.org/cgi/content/full/91/2/265

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Apolipoprotein E Polymorphism Predicts Death From Coronary Heart Disease in a Longitudinal Study of Elderly Finnish Men
Kim E. Zerba, PhD Juha Pekkanen, MD Christian Ehnholm, MD Aulikki Nissinen, MD Charles F. Sing, PhD From the National Public Health Institute (J.H.S., J.P., C.E.), Helsinki, Finland; Department of Human Genetics (J.H.S., K.E.Z., C.F.S.), University of Michigan (Ann Arbor); and Department of Community Health and General Practice (A.N.), University of Kuopio, Finland.
Abstract Top
Abstract
Introduction
Methods Results Discussion References Background There is ample evidence from cross-sectional studies of an association between allelic variation of the gene coding for apolipoprotein E (apoE) and interindividual variation in plasma lipids

69. Arteriosclerosis, Thrombosis, And Vascular Biology -- 16 (10): 1250
and covariability of cholesterol, betalipoprotein, and triglycerides Fibrillogenesis in Alzheimer s disease of amyloid N. Apolipoprotein E deficiency leads to
http://atvb.ahajournals.org/cgi/content/full/16/10/1250

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Arteriosclerosis, Thrombosis, and Vascular Biology.
Articles
Apolipoprotein E Alleles and Risk of Coronary Disease
A Meta-analysis
Peter W.F. Wilson Ernst J. Schaefer Martin G. Larson Jose M. Ordovas
the Framingham Heart Study, National Heart, Lung, and Blood Institute (P.W.F.W.) and Boston University (M.G.L.), Framingham, and Tufts USDA Nutrition Center, Boston (E.J.S., J.M.O.), Mass. Correspondence to Peter W.F. Wilson, MD, Framingham Heart Study, National Heart, Lung, and Blood Institute, 5 Thurber St, Framingham, MA 01701. E-mail peter@fram.nhlbi.nih.gov.
Abstract Top
Abstract
Introduction Methods Results Discussion References A meta-analysis was undertaken to assess the impact of apolipoprotein E (apo E) alleles ( 3, and

70. Cardiovasc
Translate this page Dieses abnorme betalipoprotein konnte bisher, neben seinem 4. Miller JP Dyslipoproteinaemia of liver disease. G, Greten H Selective deficiency of hepatic
http://www.agla.ch/dt/html/news/cardiovasc/5_02/klinik.html

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PD Dr. med. R. Mordasini
Riassunto
  • Eine gesteigerte Synthese von Lipoproteinen
  • Das Auftreten abnormer Lipoproteine
Korrespondenzadresse
PD Dr. med. R. Mordasini
Herzzentrum der Klinik Sonnenhof
CH-3006 Bern Literatur 1. Despres JP, Kraus, RM: Obesity and Lipoprotein Metabolism (1994), 651-675. 2. Hanefeld M, Kurktchiev T: Plasma lipids in diabetes. In: New horizons in diabetes mellitus and cardiovascular disease. CJ Schwartz,GVR Born (eds.) Current Science (1995), 89-96. 3. Healy B (The Writing Group for the PEPI Trial): Effects of estrogen or estrogen/progestin regimes on heart disease risc factors and postmenopausal women. JAMA (1995), 273: 199-208. 5. Mordasini R, Frey F, Flury W, Klose G, Greten H: Selective deficiency of hepatic triglyceride lipase in uremic patients. New Engl J Med (1977), 297: 1362-1366. 7. Ordonez JD, Hiatt RA, Killebrew EJ, Fireman BH: The increased risk of coronary heart disease associated with nephrotic syndrome. Kidney Int. (1993), 44: 638-642. 8. Thompson PD, Cullinane EM, Sady SP, Chenevert C: Contrasting effects of testosterone and stanzolol on serum lipoprotein levels. JAMA (1989), 261: 1165-8.

71. THE LIGHTNING HYPERTEXT OF DISEASE.
deficiency abetalipoproteinemia neuropathy congenital betalipoprotein deficiency syndrome bassen kornzweig syndrome bassen kornzweig disease bassen-kornzweig
http://www.pathinfo.com/cgi-bin/lh.cgi?tx=korn

72. A-Beta-Lipoproteinemia,Bassen-Kornzweig Syndrome,Betalipoprotein Deficiency,A-Be
SUPPORT GROUPS and information sites National Foundation for Jewish Genetic Diseases 250 Park
http://www.icomm.ca/geneinfo/abl.htm
A-Beta-Lipoproteinemia,Bassen-Kornzweig Syndrome,Betalipoprotein Deficiency,A-Beta-Lipoproteinemia,Bassen-Kornzweig Syndrome,Betalipoprotein Deficiency,Acanthocytosis Bassen-Kornzweig Syndrome,Low-Density Beta Lipoprotein Deficiency
For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
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HOME
DISORDERS GLOSSARY A-Beta-Lipoproteinemia
also known as:
Bassen-Kornzweig Syndrome
Betalipoprotein Deficiency
Acanthocytosis
(as defined by the
National Organization for Rare Disorders
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).

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