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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

Abnormalities Of High Density Lipoproteins In Abetalipoproteinemia*
Abnormalities of High Density Lipoproteins in abetalipoproteinemia*. John W.Jones and Peter Ways. Williams Research Laboratories and Medical Service,
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=297114
A Study Of The Abnormal Lipoproteins In Abetalipoproteinemia.
The serum lipoproteins of five patients with abetalipoproteinemia (ABL) were Whether the abetalipoproteinemia previously described and noted in the
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=301487
JAMA -- Abstract: Abetalipoproteinemia. New Insights Into Lipoprotein Assembly A
abetalipoproteinemia is a rare genetic disease that has provided important new abetalipoproteinemia Caused by Maternal Isodisomy of Chromosome 4q
http://jama.ama-assn.org/cgi/content/abstract/270/7/865

Extractions: Vol. 270 No. 7, August 18, 1993 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Rader DJ Brewer HB Articles that cite this article Contact me when this article is cited D. J. Rader and H. B. Brewer Jr Molecular Disease Branch, National Heart, Lung, and Blood Institute, Bethesda, Md. 20892. Abetalipoproteinemia is a rare genetic disease that has provided important new insights into the physiology of lipoprotein assembly and vitamin E metabolism. Forty-two years after its initial description, a molecular etiology of ABL has been reported to be a deficiency of a microsomal transfer protein, thus suggesting that this protein plays a key role in
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Arrest of neuropathy and myopathy in abetalipoproteinemia with highdose vitaminE therapy. RA Hegele and A. Angel. A 16-year-old girl, one of dizygotic
http://www.cmaj.ca/cgi/content/abstract/132/1/41

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► SÃndrome De Bassen-Kornzweig
apolipoproteína B. Causas, incidencia y factores de riesgo
http://www.umm.edu/esp_ency/article/001666.htm

Extractions: Toggle English Spanish Informaci³n general Sntomas Tratamiento Prevenci³n Definici³n: Es una enfermedad cong©nita rara, que se caracteriza por la incapacidad de absorber por completo las grasas de la dieta a trav©s del intestino. Lo anterior produce heces grasosas, diarrea, retraso en el desarrollo infantil y problemas con los nervios. Causas, incidencia y factores de riesgo: El sndrome de Bassen-Kornzweig es un trastorno cong©nito autos³mico recesivo que afecta ambos sexos, pero de manera predominante a los hombres (70%). Este es causado por mutaciones en uno de dos genes: la apolipoprotena B (APOB) o la protena de transferencia de triglic©rido micros³mico (MTP). El sndrome hace que el organismo no produzca lipoprotenas (mol©culas de grasa combinadas con protena ) que incluyen lipoprotenas de baja densidad ( LDL ), lipoprotenas de muy baja densidad (

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