Malattie Rare E Genetiche Lettera "A" Translate this page Abcd syndrome{} * Abdallat Davis Farrage Sindrome diAbdallat davis farragesyndrome d{} * abetalipoproteinemia/abetalipoproteinemiaSINDROME http://utenti.lycos.it/fmfpc/A.htm
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Brain Diseases, Metabolic Brain Diseases, Metabolic. Back to previous level abetalipoproteinemiaSearch PUBMED for abetalipoproteinemia All Review Therapy Diagnosis; http://medir.ohsu.edu/cliniweb/C10/C10.228.140.163.html
Neurologic Clinics Laboratory or Biopsy Abnormalities. abetalipoproteinemia. 20 43. abetalipoproteinemiais a rare autosomal recessive disorder of lipoprotein metabolism. http://medicine.ucsd.edu/peds/Pediatric Links/Links/Neurology/Ataxia and Heredia
Extractions: Volume 19 Number 3 August 2001 Henry Paulson MD, PhD Zakaria Ammache MD From the Department of Neurology, University of Iowa College of Medicine Iowa City, Iowa Address reprint requests to, Henry Paulson MD, PhD, Assistant Professor, Department of Neurology, University of Iowa College of Medicine, Iowa City, IA 52242-1101, e-mail: henry-paulson@uiowa.deu The last decade has seen great changes in the diagnosis of inherited ataxias. Previously mysterious diseases are now recognized to be caused by specific mutations for which genetic screening is readily available. In many cases, the discovery of the molecular basis has broadened our definition of the possible clinical manifestations of particular inherited ataxias. Moreover, the type of mutation underlying the more common forms of inherited ataxiaunstable trinucleotide repeat expansionshelps to explain some of the unusual features of these diseases. In this article the authors discuss recent genetic advances in ataxia. The authors' aim is not to present an exhaustive summary, but rather to provide guidance in evaluating ataxia, particularly with respect to recent molecular genetic findings. The Online Mendelian Inheritance in Man, or OMIM (
Extractions: Omita y vaya al Contenido Otros enciclopedia temas: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contenido: Nombres alternativos Abetalipoproteinemia; acantocitosis; deficiencia de apolipoproteína B Definición Volver al comienzo Es una enfermedad congénita rara, que se caracteriza por la incapacidad de absorber por completo las grasas de la dieta a través del intestino. Lo anterior produce heces grasosas, diarrea, retraso en el desarrollo infantil y problemas con los nervios. Causas, incidencia y factores de riesgo Volver al comienzo El síndrome de Bassen-Kornzweig es un trastorno congénito autosómico recesivo que afecta ambos sexos, pero de manera predominante a los hombres (70%). Este es causado por mutaciones en uno de dos genes: la apolipoproteína B (APOB) o la proteína de transferencia de triglicérido microsómico (MTP). El síndrome hace que el organismo no produzca lipoproteínas (moléculas de grasa combinadas con proteína ) que incluyen lipoproteínas de baja densidad ( LDL ), lipoproteínas de muy baja densidad (
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Gastroenterology Last Updated: January 8, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: aphthoids chronica, cachectic diarrhea, psilosis, postinfective tropical malabsorption, TS AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Oluyinka S Adediji, MD , Consulting Staff, Department of Adult and General Medicine, Health Services Incorporated, Montgomery, Alabama Coauthor(s): Lisa Ozick, MD , Chief, Assistant Professor, Department of Internal Medicine, Division of Gastroenterology, Harlem Hospital Center, Columbia University College of Physicians and Surgeons Oluyinka S Adediji, MD, is a member of the following medical societies: American College of Physicians , and American Medical Association Editor(s): Manoop S Bhutani, MD