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Abetalipoproteinemia: more detail

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

lists with details

Prep For USMLE Forums: Abetalipoproteinemia
abetalipoproteinemia is a rare, autosomal recessive disorder in which there are abetalipoproteinemia (also known as BassenKornzweig syndrome) is an
http://www.prep4usmle.com/forum/thread/3679

Extractions: This chapter focuses on the major lipid disorders, including both the dyslipoproteinemias caused by single-gene defects and the disorders that are likely to be multifactorial in origin. A practical approach is provided to assist in the identification, evaluation, and treatment of patients with increased risk of CHD. There are two forms of apo B¾apo B100 and apo B48. Apo B100 is the major apolipoprotein of VLDL, IDL, and LDL, comprising approximately 30, 60, and 95% of the protein in these lipoproteins, respectively. Apo B100 has a molecular mass of about 545 kDa and is synthesized in the liver. It is essential for the assembly and secretion of VLDL from the liver and is the ligand for the removal of LDL by the LDL receptor. The LDL receptor is a cell-surface protein that binds and internalizes lipoproteins that contain apo B100 or apo E. The LDL receptor binding domain of apo B100 is the sequence between amino acids 3200 and 3600, a region that is absent in apo B48.
Statesman.com
abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Definition.BassenKornzweig syndrome is a rare, inherited disease characterized by the
http://www.statesman.com/health/healthfd/shared/health/adam/ency/article/001666.

Extractions: Ency. home Disease B Bassen-Kornzweig syndrome Overview Symptoms Treatment Prevention Alternative names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency 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. Causes and Risks 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 (
Abetalipoproteinemia - Definition Of Abetalipoproteinemia In The Medical Diction
Definition of abetalipoproteinemia in the Medical Dictionary and Thesaurus.abetalipoproteinemia explanation. Information about abetalipoproteinemia in Free
http://medical-dictionary.thefreedictionary.com/abetalipoproteinemia

Extractions: Feedback a·be·ta·lip·o·pro·tein·e·mi·a -b t -l p -pr t -n m , -t -n n. An inherited disorder characterized by the absence of low-density lipoproteins in the plasma, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption of fats, and neuromuscular abnormalities. Also called Bassen-Kornzweig syndrome
Glosario_Abetalipoproteinemia
Translate this page Término, abetalipoproteinemia. Definición, La abetalipoproteinemia es unaenfermedad del tubo digestivo que se caracteriza por la ausencia de
http://www.discapnet.com/Discapnet/Castellano/Glosario/A/Abetalipoproteinemia.ht
Rarelink.net - Diagnoselisten Abetalipoproteinemia
Du er her Hjem Diagnoselisten abetalipoproteinemia BassenKornzweigsyndrom; Abetalipoproteinaemi, abetalipoproteinemia.
http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=29
Rarelink.net - Diagnoselisten Abetalipoproteinemia (Bassen
Du er her Hjem Diagnoselisten abetalipoproteinemia (BassenKornzweig syndrome) abetalipoproteinemia (Bassen-Kornzweig syndrome)
http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=29&synonymId=80
ABETALIPOPROTEINEMIA
Translate this page Labetalipoproteinemia è una malattia autosomica recessiva caratterizzata Nellabetalipoproteinemia, è possibile che i meccanismi che stanno alla base
http://www.malattiemetaboliche.it/articoli/abetalipoproteinemia.htm

Extractions: ABETALIPOPROTEINEMIA http://malattierare.pediatria.unipd.it/pubblicaMR/mr_frame.asp?mr=382 Sinonimi della Malattia DEFICIT DI APOLIPOPROTEINA B (CODICI) SINDROME DI BASSEN KORNZWEIG (CODICI) Definizione E una malattia da alterazione del metabolismo dei lipidi con ereditarietà autosomica recessiva caratterizzata dalla assenza quasi totale nel plasma delle apolipoproteine B e delle lipoproteine contenenti apo-B. E deficitaria o assente la proteina microsomiale che trasferisce i trigliceridi. Segni clinici e laboratoristici caratteristici sono: acantocitosi, ipocolesterolemia, neuropatia periferica, degenerazione dei cordoni posteriori, atassia e steatorrea. Può esserci anche insufficienza mentale. - Medline Thesaurus Segni e Sintomi E comune lacantocitosi degli eritrociti. Gli acantociti rappresentano dal 50 al 100 per cento degli eritrociti circolanti. Non si riscontrano nel midollo spinale. La caratteristica patofisiologica fondamentale è il malassorbimento dei grassi. Di solito viene osservato nel periodo neonatale, con vomito, diarrea e di solito incapacità di aumentare peso. I sintomi intestinali si correlano direttamente con lammontare di grassi nella dieta e tende a diminuire con letà.
Metabolic Ataxias
abetalipoproteinemia Biotinidase Deficiency Carnitine acetyltransferaseCerebrotendinous Xanthomatosis GammaGlutamyl Cysteine Synthetase Hartnup
http://www.neuro.wustl.edu/neuromuscular/ataxia/metatax.html
Disease - Bassen-Kornzweig Syndrome - Detroit, Michigan
abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Causes And Risk.BassenKornzweig syndrome is an autosomal recessive inherited disorder
http://www.henryfordhealth.org/12693.cfm

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 - Diseases And Conditions | FindYourHope.com
SIERE (Sistema de Información sobre Enfermedades Raras en Español) Translate this page abetalipoproteinemia, Instituto de Salud Carlos III La abetalipoproteinemiaes una enfermedad del tubo digestivo que se caracteriza por la ausencia de
http://www.findyourhope.com/Site/Abetalipoproteinemia/Type/Diseases And Conditio
Hormone Changes During The Menstrual Cycle In Abetalipoproteinemia: Reduced Lute
Hormone Changes during the Menstrual Cycle in abetalipoproteinemia Reduced LutealPhase Progesterone in a Patient with Homozygous Hypobetalipoproteinemia
http://www.pnas.org/cgi/content/abstract/79/21/6685

Extractions: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Illingworth, D. R. Articles by Keenan, E. J. November 1, 1982
Abetalipoproteinemia
Rarelink.net Diagnoslistan abetalipoproteinemiaDu är här Hem Diagnoslistan abetalipoproteinemia Bassen-Kornzweig syndrom;Abetalipoproteinaemi, abetalipoproteinemia.
http://tjsamson.client.web-health.com/web-health/topics/GeneralHealth/generalhea

Extractions: I thought that fat is bad(?) Too much fat is bad, but since fats have beneficial roles as insulators, some is needed for normal function of the nerves, brain , and other organs. Why wouldn't someone be able to digest fats? Abetalipoproteinemia occurs when the person is born with mutations in either the apoliprotein B gene or the microsomal triglyceride transfer protein gene. The defect results in little or no production of lipoproteins. What is a lipoprotein? Lipoproteins are metabolically-active molecules that consist of both fat and protein to transport it. A familiar lipoprotein is LDL ("bad
Rarelink.net - Diagnoslistan Abetalipoproteinemia
Du är här Hem Diagnoslistan abetalipoproteinemia (Abetalipoproteinaemi) BassenKornzweig syndrom; Abetalipoproteinaemi, abetalipoproteinemia.
http://www.rarelink.se/diagnosedetail.jsp?diagnoseId=29&synonymId=79
Rarelink.net - Diagnoselisten Bassen-Kornzweig Syndrom
Apolipoprotein B deficiency; BassenKornzweig syndrome, abetalipoproteinemia,Bassen-Kornzweig syndrom; Abetalipoproteinaemi, abetalipoproteinemia.
http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=29
All Showcase - Abetalipoproteinemia
www.ciencia.net/VerArticulo/abetalipoproteinemia?i www.webstersonline-dictionary.org/definition/tran www.websters-online-dictionary.org/definition/engl Discapacidad en Uruguay - Translate this page La abetalipoproteinemia es una enfermedad del tubo digestivo que se caracterizapor la ausencia de lipoproteínas de muy baja densidad (VLDL) y de
http://www.allshowcase.com/Health_and_Fitness/Conditions_and_Diseases/A/Abetalip
Abetalipoproteinemia - Wikipedia
abetalipoproteinemia
http://es.wikipedia.org/wiki/Abetalipoproteinemia

Extractions: Wikimedia necesita de tu ayuda en su campa±a para recolectar USD$ 200.000 . V©ase nuestra p¡gina de recolecci³n de fondos para m¡s detalles. Sin³nimos C³digo CIE-9 OMIM La Abetalipoproteinemia es una rara enfermedad que afecta al tracto digestivo , cuya principal caracterstica es la incapacidad que tiene el organismo de absorber adecuadamente los componentes grasos del alimento a trav©s del intestino, lo que tiene como consecuencia la producci³n de heces grasosas (esteatorrea), deficiencia en el desarrollo infantil y problemas en los nervios. editar Esta enfermedad es de orgen gen©tico, provandose la existencia de una mutaci³n en uno de estos dos genes en los pacientes: apolipoprotena B (APOB) o protena de transferencia de triglic©rido micros³mico (MTP). Esta enfermedad afecta a ambos sexos, sin embargo es m¡s frecuente en los hombres, llegando estos a representar el 70% de los casos. La mutaci³n ocasiona que el organismo sea incapaz de producir lipoprotenas (entre las que se incluyen lipoprotenas de baja densidad (LDL) y lipoprotenas de muy baja densidad (VLDL)), adem¡s de
Health Encyclopedia - Evanston Northwestern Healthcare
Alternative Names . abetalipoproteinemia; Acanthocytosis; Apolipoprotein Bdeficiency. Causes, incidence, and risk factors . BassenKornzweig syndrome is
http://www.enh.org/healthandwellness/encyclopedia/ency/article/001666.asp

Extractions: @import "/styles.css"; @import "/small.css"; Skip Navigation Health Encyclopedia Disease Reference Injury Reference Test Reference ... Decrease Font 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. Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency 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 (
DICCIONARIO ILUSTRADO DE TÉRMINOS MEDICOS
Translate this page abetalipoproteinemia una rara enfermedad autosómica recesiva, de presentacióninfantil caracterizada por la ausencia casi total de producción de
http://www.iqb.es/diccio/a/aa.htm

Extractions: A B C D ... Z A-4166: derivado de fenilalanina que actúa como estimulante de la secreción de insulina. En fase de evaluación clínica. ( A-46: símbolo de una proteína hallada en el tejido cerebral de los pacientes con enfermedad de Alzheimer. Se encuentra también en los cerebros normales en desarrollo de fetos y de niños, pero empieza a desaparecer a la edad de 2 años AARON Charles ): médico norteamericano, conocido por su signo (signo de Aarón: sensación de dolor en el epigastrio o región precordial por presión en el punto de Mac Burney en el apendicitis) A bacavir: fármaco antivírico, que actúa inhibiendo la transcriptasa reversa del virus HIV. ( Abacteremia: ausencia de bacterias en la sangre. Abalienación: desarreglo mental, insania. Abamectina: Streptomyces avermitilis Abandono: renuncia, deserción. Cese unilateral por parte del profesional de la salud de su relación con un paciente, sin previo aviso razonable para este último cuando sigue existiendo la necesidad de sus servicios profesionales. Abandono de un lactante o niño [ICD-10: T74.0]
Arch Neurol -- Abstract: Abetalipoproteinemia And Metastatic Spinal Cord Gliobla
abetalipoproteinemia (ABL BassenKornzweig syndrome) is characterized by markedhypolipidemia with absence of low-density lipoproteins, fat-soluble
http://archneur.ama-assn.org/cgi/content/abstract/41/5/554

Extractions: Vol. 41 No. 5, May 1984 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Newman RP Oldfield EH Contact me when this article is cited R. P. Newman, E. J. Schaefer, C. B. Thomas and E. H. Oldfield Abetalipoproteinemia (ABL [Bassen-Kornzweig syndrome]) is characterized by marked hypolipidemia with absence of low-density lipoproteins, fat-soluble vitamin deficiency, spinocerebellar ataxia, and retinitis pigmentosa. Our patient had ABL, severe neurologic disease, and spinal cord malignancy, as well as disseminated CNS and extraneural metastases. It is possible that patients with this disorder and long-standing fat-soluble vitamin deficiency may have increased risk for CNS malignancy.
Arch Neurol -- Abstract: Abetalipoproteinemia. Report Of Two Cases And Review Of
Knockout of the abetalipoproteinemia gene in mice Reduced lipoprotein secretionin heterozygotes and embryonic lethality in homozygotes Raabe et al.
http://archneur.ama-assn.org/cgi/content/abstract/37/10/659

Extractions: Vol. 37 No. 10, October 1980 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Illingworth DR Miller RG Articles that cite this article Contact me when this article is cited D. R. Illingworth, W. E. Connor and R. G. Miller The clinical presentation and course of abetalipoproteinemia in two male patients, a child and an adult, are described. Apoprotein B was absent in blood smear. Family studies revealed normal lipid profiles in the parents of both patients, which is consistent with the usual autosomal recessive inheritance of this disorder. In addition to a low-fat diet, both patients

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