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         Abetalipoproteinemia:     more detail
  1. Abetalipoproteinemia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Scott, MS, CGC Polzin, 2005
  2. Abetalipoproteinemia
  3. Abetalipoproteinemia - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
  4. Bassen-Kornzweig syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Bryan, PhD Cobb, 2005

41. Annual Reviews - Error
Morphologic features of the liver in abetalipoproteinemia. abetalipoproteinemiatreated with parenteral and oral vitamins A, E, with medium chain
http://arjournals.annualreviews.org/doi/full/10.1146/annurev.nutr.20.1.663
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42. MedCirca.com | Lippincott Williams & Wilkins
Index Search Results for abetalipoproteinemia What s an Index Search? abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an
http://www.medcirca.com/search/indexsearch.asp?root_id=3&index=yes

43. Abetalipoproteinemia - BlueRider.com
abetalipoproteinemia listen domain availability. Dictionary and Thesaurusentries for. abetalipoproteinemia. Your search results
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Web bluerider.com abetalipoproteinemia [n] 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 Synonyms : See Also: hypobetalipoproteinemia lipidosis
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44. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Neurological_Disor
News; Books; Links. More news about abetalipoproteinemia . Error We did notfind any matches for your request. More books about abetalipoproteinemia
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  • WebMD/Lycos - A definition of Bassen-Kornzweig syndrome, followed by a look at the alternate names, causes, symptoms, tests, treatment, prognosis and complications. people involved in abetalipoproteinemia - we are people who have this disorder annd /or family involved. group help with information, support and investigation
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45. Medicine Online Medical Reference Medical Information, Symptoms And Signs Medica
Diseases and Conditions Blood Disorders - abetalipoproteinemia. Records found0, Number of Pages 1, Go to Page of 1. Add your site
http://www.medicineonline.com/Default.asp?SubSubCatID=958&Main=1

46. Penn State Faculty Research Expertise Database (FRED)
, A disorder of lipid metabolism inherited asan autosomal recessive trait characterized by the near absence of......abetalipoproteinemia.
http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D000012

47. Abetalipoproteinemia: Metabolic, Endocrine, And Electron-microscopic Investigati
Pediatrics, 4891, 1971, abetalipoproteinemia, SHORT STATURE, ENDOCRINE EVALUATION,LIPID STUDIES, DUODENAL HISTOLOGY.
http://pediatrics.aappublications.org/cgi/content/abstract/48/1/91
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This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Sperling, M. A. Articles by Drash, A. L. Pediatrics, Jul 1971, 91-102, Vol 48, No. 1
Abetalipoproteinemia: metabolic, endocrine, and electron-microscopic investigations
MA Sperling, F Hengstenberg, E Yunis, FM Kenny and AL Drash
Department of Pediatrics, Harbor General Hospital, 1000 West Carson Street, Torrance, California 90509. ABSTRACT. Two siblings presenting with short stature and severely retarded skeletal maturation were found to have steatorrhea, retinitis pigmentosa, night blindness, and loss of posterior column function. The finding of acanthocytosis in the peripheral blood smear, low levels of all serum lipid fractions, and complete absence of betalipoproteins on electrophoresis

48. Normotriglyceridemic Abetalipoproteinemia In Infancy: An Isolated Apolipoprotein
Normotriglyceridemic abetalipoproteinemia in infancy an isolated apolipoproteinB100 deficiency. Y Takashima, T Kodama, H Iida, M Kawamura, H Aburatani,
http://pediatrics.aappublications.org/cgi/content/abstract/75/3/541
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Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency
Y Takashima, T Kodama, H Iida, M Kawamura, H Aburatani, H Itakura, Y Akanuma, F Takaku and M Kawade The plasma lipoproteins of a 1-year-old Japanese infant were studied because of malnutrition, severe decrease in plasma lipid level, and acanthocytosis. Plasma lipoprotein analysis revealed that low-density lipoproteins were deficient; however, low levels of triglyceride-rich lipoproteins were found in the plasma. On sodium dodecylsulfate (SDS) polyacrylamide gel electrophoresis, apoprotein B-48 and a faint band

49. HighWire -- Browse Journals - Abetalipoproteinemia
Browse Journals publishing on abetalipoproteinemia, (return to Topic List page) Journals focusing on abetalipoproteinemia (in order by highest focus)
http://highwire.stanford.edu/lists/topic_dir/608683/608684/613947/613948/614082/
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Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Abetalipoproteinemia: (return to Topic List page) Abetalipoproteinemia
Sort by: Alphabet Frequency of articles in Abetalipoproteinemia Focus of journal on Abetalipoproteinemia What's this? Journals focusing on Abetalipoproteinemia (in order by highest focus) New England Journal of Medicine info Human Molecular Genetics info ... Blood Protein Disorders Abetalipoproteinemia Home Adv. Search For Institutions For Publishers ... partners/suppliers

50. Automated Web Directory: Abetalipoproteinemia
root health medicine branches_of_medicine_and_dentistry conditions_and_diseases abetalipoproteinemia. Snowfox alphabetic index
http://www.snowfox.com/topictrees/English/root/health/medicine/branches_of_medic
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51. Abetalipoproteinemia - Descipher Health
abetalipoproteinemia. From Descipher Health External Links. Retrievedfrom http//www.descipher.com/health/info/abetalipoproteinemia . Views
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Abetalipoproteinemia
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(Redirected from LDL deficiency Description: Table of contents showTocToggle("show","hide") 1 Synonyms
2 Cause

3 Population Distribution

4 Effects
...
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Synonyms
Bassen-Kornzweig syndrome, low-density lipoid deficiency, LDL deficiency edit
Cause
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Effects
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Signs
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Differential Diagnosis
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52. Abetalipoproteinemia - Descipher Health
NEUROACANTHOCYTOSIS DISORDERS Contact a Family for families abetalipoproteinemia; Bassen-Kornzweig syndrome; Acanthocytosis; abetalipoproteinemia was first described by Dr FA Bassen and Dr AL Kornzweig in 1950.
http://www.descipher.com/health/info/Abetalipoproteinemia
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Abetalipoproteinemia
From Descipher Health
Description: Table of contents showTocToggle("show","hide") 1 Synonyms
2 Cause

3 Population Distribution

4 Effects
...
edit
Synonyms
Bassen-Kornzweig syndrome, low-density lipoid deficiency, LDL deficiency edit
Cause
edit
Population Distribution
edit
Effects
edit
Symptoms
edit
Signs
edit
Diagnostic Tests
edit
Differential Diagnosis
edit
Treatment
edit
Expected Outcome
edit
Prevention
edit
Medical References
edit
External Links
Retrieved from " http://www.descipher.com/health/info/Abetalipoproteinemia Views Personal tools Check Lab Results Diseases Labs ...
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This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

53. Bassen-Kornzweig Syndrome
diarrhea, failure to thrive in infancy, and problems with nerves. AlternativeNames. abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
http://www.healthscout.com/ency/1/001666.html
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Bassen-Kornzweig syndrome
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Bassen-Kornzweig syndrome
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, incidence, and risk factors: 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 (

54. Abetalipoproteinemia - Abetalipoproteinemia Information
abetalipoproteinemia abetalipoproteinemia Information.
http://www.free-food-recipes.com/abetalipoproteinemia.htm
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Abetalipoproteinemia Information
Abetalipoproteinemia Information
Abetalipoproteinemia can be defined as the rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels. Individuals with abetalipoproteinemia may be prescribed special vitamin E supplements by a physician to treat this disorder.
Abetalipoproteinemia Symptoms
Here are the list of some of the Abetalipoproteinemia Symptoms:
  • Autosomal recessive inheritance
  • Malabsorption/chronic diarrhoea
  • Areflexia/hyporeflexia
  • Ataxia/incoordination
  • Hypotonia
  • Movement disorder
  • Retinal pigmentary changes peripheral
  • Visual loss-severe
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55. MeSH-D Terms Associated To MeSH-C Term Abetalipoproteinemia
MeSHD terms associated to MeSH-C term abetalipoproteinemia, G2D Home the strength of the association of the corresponding term to abetalipoproteinemia.
http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Abetalipoproteinemia:unknown

56. References For Hypobetalipoproteinemia, Familial, 2 With The MeSH
References for Hypobetalipoproteinemia, familial, 2 with the MeSH termabetalipoproteinemia, G2D Home. PMID and date. Follow the link to see the
http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Abetalipoproteinemia

57. Tropes
605552 3q27 Abdominal obesitymetabolic syndrome, 605552 (2) AOMS2 60557217p12 abetalipoproteinemia (3) APOB , FLDB 107730 2p24 abetalipoproteinemia,
http://freesense.free.fr/Diseases/d/0009.htm

http://www.ncbi.nlm.nih.gov/htbin-post/Omim/getmorbid
obesity -metabolic syndrome (2) AOMS1, SYNX 605552 3q27 Abdominal obesity -metabolic syndrome, 605552 (2) AOMS2 605572 17p12 Abetalipoproteinemia (3) APOB , FLDB 107730 2p24 Abetalipoproteinemia Precedent Suivant Tropes Web V1.0

58. Brain Diseases, Metabolic, Inborn
605552 (2) AOMS2 605572 17p12 abetalipoproteinemia (3) APOB. , FLDB 1077302p24 abetalipoproteinemia, 200100 (3) MTP 157147 4q22q24 Acampomelic
http://freesense.free.fr/Diseases/c/404.htm

http://www.ncbi.nlm.nih.gov/htbin-post/Omim/getmorbid
, AAS 305400 Xp11. 21 Abdominal obesity -metabolic syndrome (2) AOMS1, SYNX 605552 3q27 Abdominal obesity -metabolic syndrome, 605552 (2) AOMS2 605572 17p12 Abetalipoproteinemia (3) APOB , FLDB 107730 2p24 Abetalipoproteinemia , 200100 (3) MTP 157147 4q22-q24 Acampomelic campolelic dysplasia (3) SOX9, CMD1, SRA1
http://www.ncbi.nlm.nih.gov/genome/guide/HsChrX.shtml
Clusters Mouse Homologies for Human Chr. X_chromosome X Disease Genes Myelin stained section of brain in adrenoleukodystrophy Adrenoleukodystrophy Duchenne Muscular_dystrophy Lowe Syndrome Norrie Disease Rett_syndrome See OMIM or Genes and Disease for additional examples
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr1.shtml
for Human Chr. 1 Chromosome 1 Disease Genes Some diseases associated with chromosome 1 mutations Chediak-higashi_syndrome Charcot-Marie-Tooth Neuropathy-2a Ductal Breast_cancer Usher Syndrome,
http://www.ncbi.nlm.nih.gov/disease/Metabolism.html
Metabolism Adrenoleukodystrophy Atherosclerosis Best disease Glucose galactose malabsorption Gyrate_atrophy Juvenile onset diabetes Obesity Paroxysmal nocturnal hemoglobinuria Phenylketonuria Tay-sachs_disease METABOLISM is the means by
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr15.shtml

59. Bassen-Kornzweig Syndrome (Disease) - Des Moines, Iowa Health Hospital
abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Causes And Risk.BassenKornzweig syndrome is an autosomal recessive inherited disorder
http://www.iowahealth.org/12635.cfm

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Bassen-Kornzweig syndrome (Disease)
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).
People with this disease are unable to properly digest fat, and have underdeveloped nerves (neuropathy), poor muscle coordination (

60. OEDILF - Word Search
www.absoluteastronomy.com/encyclopedia/a/ab/abetal abetalipoproteinemia Cause, Symptoms, Treatment and Cureabetalipoproteinemia Cause, Symptoms, Treatment and Cure. Deficiency is seen onlyin children with abetalipoproteinaemia and in patients on longterm
http://www.oedilf.com/db/Lim.php?Word=abetalipoproteinemia

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