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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

61. AAA – Adr
abetalipoproteinemia. http//webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/a.abetalipoproteinemia. http//www.healthcentral.com/library/library.cfm.
http://www.healthmednet.com/AAA - Adr.htm
AAA – Adr A.D.D. Forum http://www.compuserve.com/health/ail.asp a.l.l. http://webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/a a.r.f. http://webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/a AAA (Abdominal Aortic Aneurysm) aarskog syndrome http://webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/a Aarskog Syndrome http://www.familyvillage.wisc.edu/card_ab.htm AARSKOG SYNDROME http://www.icondata.com/health/pedbase/pedlynx.htm Aarskog Syndrome Aarskog Syndrome http://www.support-group.com/ Aarskog Syndrome@ http://dmoz.org/Health/Conditions_and_Diseases/ aarskog-scott syndrome http://webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/a aase syndrome http://webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/a AASE SYNDROME http://www.icondata.com/health/pedbase/pedlynx.htm Aase Syndrome Aase Syndrome@ http://dmoz.org/Health/Conditions_and_Diseases/ aase-smith syndrome http://webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/a aat deficiency http://webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/a

62. HDF Case 996741
abetalipoproteinemia is a rare group of inherited disorders of childhood characterizedby an absence or a deficiency of apoprotein B, which is required to
http://slpath.s5.com/d01/dd996741.htm
Free Web site hosting - Freeservers.com
Case 996741
  • 31 y.o. female with a malabsorption syndrome. Duodenal mucosa is pale looking in endoscopy, with a mosaic pattern. Endoscopic biopsy ... Scanning view: Duodenal villous pattern preserved. Low power view, villi and crypts are regular. Tip of villi, are lined by a columnar epithelium, having a clear cytoplasm. High power view, enterocytes are stuffed with clear vacuoles. Closer view of the intestinal epithelium The epithelium gradually becomes normal towards the crypts. Closer view on the previous field: clear cytoplasmic vacuoles, are negative to special stains in the processed tissues.
DIAGNOSIS
  • Enterocytic lesions with preserved intestinal villous architecture consistent with abetalipoproteinemia.
Abetalipoproteinemia
  • is a rare group of inherited disorders of childhood characterized by an absence or a deficiency of apoprotein B, which is required to synthesize and transport very low density lipoproteins and chylomicrons. This results in normal absorptive cell uptake of fatty acids but inability to synthesize them into chylomicrons. The absorptive cells become stuffed with fat . Ultimately, fat is unable to enter the absorptive cells and steatorrhea ensues.
Pathogenesis
  • The mechanism of chylomicron formation and secretion in the gut is complex. Following lipolysis of dietary fat in the gut lumen, there is passive diffusion of fatty acids into the endoplasmic reticulum of enterocytes. Here chylomicron assembly occurs in the presence of phospholipids, cholesterol, and a number of apoproteins. The chylomicrons are then assembled in the Golgi apparatus and extruded by exocytosis into the intercellular spaces or intestinal lymphatics. To date, abnormalities have been described in apoprotein production and from a defect in the final assembly of chylomicrons in the mechanism of exocytosis.

63. Dr-Ruffino.com.ar - Noticias De Actualidad
Translate this page abetalipoproteinemia Se caracteriza por la ausencia casi total de VLDL y LDLen el plasma con ausencia de quilomicrones en el período posprandial.
http://www.dr-ruffino.com.ar/temas/news/art7.html
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Volver al Inicio Agregar a Favoritos Marcar como Página de Inicio Temas HTA C. Isquémica Casos Clínicos Cirugía ... Misceláneas Servicios Dietas On-line Información Congresos Consultorio Personal Currículum Contactos Libro de Visitas E-mail Sitios Recomendados Cardiología Buscadores Médicos Revistas Universidades ... Otros Noticias de actualidad: Marcadores bioquímicos de las dislipidemias
Marcadores bioquímicos de las dislipidemias
A. Gil
Departamento de Bioquímica y Biología Molecular. Universidad de Granada.
An Esp Pediatr 2001; 54: 1 - 3
Los trastornos que afectan la estructura, composición o metabolismo de las lipoproteínas reciben el nombre de dislipemias o dislipidemias y se suelen agrupar en hiperlipoproteinemias, hipolipoproteinemias y aparición de lipoproteínas anómalas. Las hiperlipoproteinemias (HLP) son las más frecuentes y se clasifican según criterios analíticos aceptados por la OMS en seis tipos. En la hipertrigliceridemia o HLP tipo I, existen quilomicrones en ayunas. En la HPL tipo IIa existe hipercolesterolemia con aumento concomitante de las LDL; en la HLP tipo IIb, o hiperlipidemia combinada, aumentan tanto las LDL como las VLDL; en la HPL tipo III o disbetalipoproteinemia aparecen VLDL remanentes; en la HPL tipo IV o hipertrigliceridemia endógena aumentan las VLDL y en la HPL tipo V o hiperlipidemia mixta aumentan las VLDL y aparecen también quilomicrones.
La clasificación anterior es válida a efectos de tratamiento, pero cada uno de los tipos de HPL comprende varias enfermedades de etiología diferente, tanto primarias como secundarias. Así, parece preferible en la actualidad clasificar las HPL en función de las alteraciones moleculares asociadas con la biosíntesis, secreción y metabolismo de las lipoproteínas. Dentro de las HPL primarias de origen genético existen un número de alteraciones que afectan a las lipoproteínas que contienen apo B y otras que afectan a las lipoproteínas que contienen apo A; además existen dislipemias secundarias a otras enfermedades, fármacos o hábitos de vida, especialmente el tipo de alimentación.

64. Stephen G. Young
A Mouse Model for abetalipoproteinemia. abetalipoproteinemia, an inheritedhuman disease characterized by a nearcomplete absence
http://gweb1.ucsf.edu/gicd/youngc.html
Stephen G. Young, M.D. Senior Investigator
Gladstone Institute of Cardiovascular Disease
Professor of Medicine
University of California, San Francisco E-mail: syoung@gladstone.ucsf.edu
Telephone: (415) 695-3713
Facsimile: (415) 285-5632 Apolipoprotein B Molecular Genetics
Overview A major focus of our laboratory is to investigate the physiology and molecular genetics of lipid transport in the plasma. One recent project has been to use gene-targeting technology to generate mouse models of abetalipoproteinemia, a human lipoprotein deficiency syndrome. Other projects have been to use transgenic mice to define the regulation of the apolipoprotein (apo) B gene in the intestine and to understand the physiologic importance of lipoprotein production by cardiac myocytes. Another focus is to investigate the physiologic importance of specific posttranslational protein modifications. We are currently using gene-targeted mice to define the physiologic importance of several membrane proteins integral to the endoplasmic reticulum that are involved in the processing of isoprenylated CaaX proteins, such as the Ras proteins.

65. Suchmaschine Acoon - Webkatalog
Top Health Conditions and Diseases Neurological Disorders BrainDiseases Metabolic abetalipoproteinemia General Practice
http://www.acoon.de/cgi-bin/showcat.exe?cat=Top/Health/Conditions_and_Diseases/N

66. Blood Protein Disorders
Blood Protein Disorders. Back to previous level abetalipoproteinemiaSearch PUBMED for abetalipoproteinemia All Review Therapy Diagnosis;
http://www.ohsu.edu/cliniweb/C15/C15.378.147.html
Blood Protein Disorders
Back to previous level

67. Hypolipoproteinemia
Hypolipoproteinemia. Back to previous level abetalipoproteinemia SearchPUBMED for abetalipoproteinemia All Review Therapy Diagnosis;
http://www.ohsu.edu/cliniweb/C18/C18.452.648.556.485.html
Hypolipoproteinemia
Back to previous level

68. WebMD/Lycos - Article
medicaltest-topic Abdominal Wall Defect nord Abdominal X-Ray medical-test-topicAbercrombie Syndrome nord abetalipoproteinemia (Bassen-Kornzweig
http://webmd.lycos.com/content/healthwise/106/26476
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69. Neurologische Und Psychiatrische Links
Translate this page A, abetalipoproteinemia Pediatrics Database (PEDBASE)abetalipoproteinemia CHORUS- Medical College of Wisconsin ATAXIAS- abetalipoproteinemia- Washington,
http://www.neuro24.de/linkseite.htm
Karl C. Mayer Facharzt für Neurologie Psychiatrie und Facharzt für Psychotherapeutische Medizin, Psychoanalyse Glossar: A B C D ... Z Search our Site:
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69117 Heidelberg , Friedrich-Ebert-Anlage 7 Telefon: (06221) 16 06 10 Diese Linkseite wird seit Mai 2000 nicht mehr aktualisiert, und demnächst aus der Homepage herausgenommen. Aktuelle Links finden Sie jeweils in den entsprechenden Kapiteln der Homepage, im Glossar und in den Rubriken Organisationen, Zeitschriften, Anatomie, deutsche Adressen ... Selbsthilfegruppen Linkseite: Viele Links finden Sie auch auf den entsprechenden nach Themen geordenten Seiten dort oft mit einer Beschreibung. Auf den ersten Blick mögen es teilweise unübersichtlich viele Links zu einem Thema sein. Meist handelt es sich dann um chronische Erkrankungen, die häufig sind. Am Link selbst kann man in der Regel erkennen, ob man mit (was am häufigsten ist) englischen oder deutschen Texten rechnen kann. Medizin ist eine Wissenschaft, alles gilt solange bis es widerlegt, oder durch etwas Besseres ersetzt ist. Oft werden Sie bei Suche auf verscheidenen Seiten unterschiedliche Auffassungen finden. Nur ein Teil des medizinischen Wissens ist wissenschaftlich wirklich belegt. Die diesbezügliche Prüfung (eviendence based medizine) macht immer schnellere Fortschritte, hier hilft das Internet am Ball zu bleiben. Siehe auch den Beipackzettel und Einführung . Bitte bedenken Sie immer ein Computer stellt keine Diagnosen, er kann auch nie entscheiden was für Sie die beste Behandlung ist. Besprechen Sie Ihre Informationen aus dem Internet mit Ihrem Arzt. Wenn sie das englische Wort für die Diagnose nicht wissen, versuchen sie

70. ABADIE V
SASSOLAS A., CADIOT G., LACHAUX A., MUNCK A., SCHMITZ J., AGGERBECK LP, SAMSONBOUMAME Apolipoprotein b48 glycosylation in abetalipoproteinemia and anderson's
http://www.necker.fr/irnem/Unites 2001/01deptped.htm
ABADIE V., ANDRE A., ZAOUCHE A., THOUVENIN B., BAUJAT G., SCHMITZ J.
Early feeding resistance: a possible consequence of neonatal oro-oesophageal dyskinesia.
Acta Paediatr., ; (Facteur d'Impact 1999 :
(Services cités : Département de Pédiatrie, Gastroentérologie Pédiatrique
ABADIE V., BERTHELOT J., FEILLET F., MAURIN N., MERCIER A., de BAULNY H.O., de PARSCAU L.
Neonatal screening and long-term follow-up of phenylketonuria: the french database.
Early Hum. Dev., ; (Facteur d'Impact 1999 :
(Services cités : Département de Pédiatrie
ACQUAVIVA C., BENOIST J.F., CALLEBAUT I., GUFFON N., de BAULNY H.O., TOUATI G., AYDIN A., PORQUET D., ELION J.
N219y, a new frequent mutation among mut degrees forms of methylmalonic acidemia in caucasian patients.
Eur. J. Human Genet., ; (Facteur d'Impact 1999 : (Services cités : Département de Pédiatrie ANJOT M.N., RAQBI F., ABADIE V., DESGUERRE I. Radiological case of the month - Aicardi-Goutieres syndrome. Archives Pédiatrie, ; (Facteur d'Impact 1999 : (Services cités : Département de Pédiatrie BAUJAT G., FAURE T., ZAOUCHE A., VIARME F.F., COULY G., ABADIE V.

71. Apolipoprotein B Deficiency (codes) Bassen Kornzweig Syndrome (
Name abetalipoproteinemia Synonyms, apolipoprotein b deficiency (codes). Malabsorptionof fat is a central pathophysiological feature of abetalipoproteinemia.
http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=382

72. Familial Hypobetaliproteinemia (codes)
state, clinical manifestations of familial hypobetalipoproteinemia are indistinguishablefrom those of abetalipoproteinemia acanthocytosis, neuromuscolar
http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=471

73. Abetalipoproteinemia Information Sites
Reviewed abetalipoproteinemia sites, by people who know abetalipoproteinemiaand work with abetalipoproteinemia. MEDICALorg.com.
http://www.medicalorg.com/ConditionsandDiseases/NeurologicalDisorders/BrainDisea
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74. JavaSite - JavaScripts
Translate this page A) Hepatopatia - hemoglobinopatia C - abetalipoproteinemia. C) Talassemia - abetalipoproteinemia- esferocitose. D) Mielofibrose - hepatopatia - esferocitose.
http://orbita.starmedia.com/~medbahia/servidor2000.htm
var logDomain = "starmedia"; var logChannel = "paginaspersonales"; var logPath = "otros";
001 - Entre os fatores de risco para o desenvolvimento de carcinoma basocelular, existem :
A) Tetraciclinas, penicilinas, cefalosporinas.
E) b-bloqueadores, dobutamina, metilprednisolona.
007 - Algumas alterações morfológicas de eritrócitos são comuns em algumas condições patológicas. Assinale a alternativa que contém a seqüência respectiva de entidades mais associadas com os seguintes achados : hemácias em "alvo" - hemácias em "gota de lágrima" - microesferócitos.
A) Hepatopatia - hemoglobinopatia C - abetalipoproteinemia.
C) Talassemia - Abetalipoproteinemia - esferocitose.
D) Mielofibrose - hepatopatia - esferocitose.
C) Pela morte reprodutiva celular.
B) Anticoagulantes orais.
A) Oculomotor. B) Abducente. C) Troclear. D) Vago. E) Hipoglosso. A) Amaurosis fugax.

75. Bassen-Kornzweig Syndrome
nerves. Alternative Names abetalipoproteinemia; Acanthocytosis; ApolipoproteinB deficiency. Causes, incidence, and risk factors p.
http://www.mercydesmoines.org/ADAM/Encyclopedia/ency/article/001666.asp
document.frmSearch.txtDoctorSearch.onkeydown = CheckKeyDoctor; document.frmSearch.txtHealthNewsSearch.onkeydown = CheckKeySite; Disease Injury Nutrition Poison ... Prevention
Bassen-Kornzweig syndrome
Definition: textLink 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: p 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 (

76. Excite Deutschland - Web-katalog - Abetalipoproteinemia
Similar pages Cysteine Research from HealthGate Search Record 2 from database MEDLINE Order full text for this document Title Mutationsof the microsomal triglyceridetransfer-protein gene in abetalipoproteinemia.
http://www.excite.de/directory/Health/Conditions_and_Diseases/Neurological_Disor
WETTER
HOROSKOP

WEB-KATALOG
REISE ...
SUCHE
W E B- K A T A L O G GRUSSKARTEN
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Modem

Telefonie
Satellit
Surf Tipps News Entertainment Games Sport 5 Web-Sites in der Kategorie Abetalipoproteinemia General Practice Notebook - Abetalipoproteinaemia Extensive information on the genetics, presentation, investigation and treatment of this metabolic disorder. http://www.gpnotebook.co.uk/MedwebPage.cfm?ID=470155295 Med Help A brief definition of abetalipoproteinemia. http://medhlp.netusa.net/glossary/new/GLS_0033.HTM Pediatric Database A definition of abetalipoproteinemia, followed by epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/ABETALIP.HTM WebMD/Lycos A definition of Bassen-Kornzweig syndrome, followed by a look at the alternate names, causes, symptoms, tests, treatment, prognosis and complications. http://webmd.lycos.com/content/asset/adam_disease_abetalipop

77. Untitled
and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levelsWordNet for 'abetalipoproteinemia' Synonyms by sense
http://reliant.teknowledge.com/DAML/Corpus/a/abetalipoproteinemia.html
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 WordNet for 'abetalipoproteinemia'
Synonyms by sense
  • Nouns:
  • 1. 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: abetalipoproteinemia
  • Verbs: Adjectives: Adverbs:

Hypernyms by sense
  • Nouns
      abetalipoproteinemia : 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
        genetic_disease,genetic_disorder,genetic_abnormality,congenital_disease,inherited_disease,inherited_disorder : a disease or disorder that is inherited genetically
      Verbs

    Hyponyms by sense
    • abetalipoproteinemia : 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

    Antonyms by sense
    • Nouns Verbs Adjectives Satellite Adjectives Adverbs

78. Excite Italia - Directory
abetalipoproteinemia was not considered. Other disorders
http://www.excite.it/directory/Health/Conditions_and_Diseases/Neurological_Disor
FINANZA
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METEO
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AAA/RELAZIONI
D I R E C T O R Y
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Servizi Stradario Aziende Informazioni News Borsa Meteo Sport Tempolibero Cinema Programmi TV Oroscopo Arte ... Eros Viaggi Mappe Paesi Hotel Agriturismo ... Aereo e Treni Relazioni Annunci personali Chat Newsgroup 5 siti nella categoria Abetalipoproteinemia General Practice Notebook - Abetalipoproteinaemia Extensive information on the genetics, presentation, investigation and treatment of this metabolic disorder. http://www.gpnotebook.co.uk/MedwebPage.cfm?ID=470155295 Med Help A brief definition of abetalipoproteinemia. http://medhlp.netusa.net/glossary/new/GLS_0033.HTM Pediatric Database A definition of abetalipoproteinemia, followed by epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/ABETALIP.HTM WebMD/Lycos A definition of Bassen-Kornzweig syndrome, followed by a look at the alternate names, causes, symptoms, tests, treatment, prognosis and complications. http://webmd.lycos.com/content/asset/adam_disease_abetalipop

79. Marcadores Bioquímicos De Las Dislipemias
Translate this page alimentación. abetalipoproteinemia. Se caracteriza Hipobetalipoproteinemia.abetalipoproteinemia. Hipobetalipoproteinemia con retención
http://www.gastroinf.com/marcadores_bioquimicos.htm
Marcadores bioquímicos de las dislipemias
A. Gil a
a Departamento de Bioquímica y Biología Molecular. Universidad de Granada.
An Esp Pediatr 2001; 54: 1 - 3
Los trastornos que afectan la estructura, composición o metabolismo de las lipoproteínas reciben el nombre de dislipemias o dislipidemias y se suelen agrupar en hiperlipoproteinemias, hipolipoproteinemias y aparición de lipoproteínas anómalas. Las hiperlipoproteinemias (HLP) son las más frecuentes y se clasifican según criterios analíticos aceptados por la OMS en seis tipos. En la hipertrigliceridemia o HLP tipo I, existen quilomicrones en ayunas. En la HPL tipo IIa existe hipercolesterolemia con aumento concomitante de las LDL; en la HLP tipo IIb, o hiperlipidemia combinada, aumentan tanto las LDL como las VLDL; en la HPL tipo III o disbetalipoproteinemia aparecen VLDL remanentes; en la HPL tipo IV o hipertrigliceridemia endógena aumentan las VLDL y en la HPL tipo V o hiperlipidemia mixta aumentan las VLDL y aparecen también quilomicrones. La clasificación anterior es válida a efectos de tratamiento, pero cada uno de los tipos de HPL comprende varias enfermedades de etiología diferente, tanto primarias como secundarias. Así, parece preferible en la actualidad clasificar las HPL en función de las alteraciones moleculares asociadas con la biosíntesis, secreción y metabolismo de las lipoproteínas. Dentro de las HPL primarias de origen genético existen un número de alteraciones que afectan a las lipoproteínas que contienen apo B y otras que afectan a las lipoproteínas que contienen apo A; además existen dislipemias secundarias a otras enfermedades, fármacos o hábitos de vida, especialmente el tipo de alimentación.

80. Alphabetical Topic Index (AZ) Jump To A B C D E F G H I J K L M
Stage IV Colorectal Cancer Stage II or III Colorectal Cancer Abducens Nerve InjuryAbducens Nerve Injury abetalipoproteinemia abetalipoproteinemia Abnormal
http://www.uscuh.com/apps/Intermap/topiclist/SectionA.html
Alphabetical Topic Index (A-Z):
Jump To: A B C D ... Ax
A
Ab
Abdominal Cancer Seeding

Neoplasm Seeding

Abdominal Problems
Colorectal Cancer Overview

Early Stage Colorectal Cancer

Stage I Colorectal Cancer

Liver Cirrhosis
...
Stage II or III Colorectal Cancer

Abducens Nerve Injury Abducens Nerve Injury Abetalipoproteinemia Abetalipoproteinemia Abnormal Menstrual Bleeding Abnormal Menstrual Bleeding Abnormal Pap/Dysplasia Abnormal PAP Smear Cervical Dysplasia Abortion, Incomplete Abortion, Incomplete Abortion, Missed Abortion, Missed Abortion, Septic Abortion, Septic Abortion, Threatened Abortion, Threatened Abuse - Physical or Mental Rape Shaken Baby Syndrome Back To Top ^ Ac Acanthamoeba Keratitis Acanthamoeba Keratitis Acantholysis Acantholysis Acanthosis Nigricans Acanthosis Nigricans Acatalasia Acatalasia Accelerated Idioventricular Rhythm Accelerated Idioventricular Rhythm Accessory Nerve Diseases Accessory Nerve Diseases Achlorhydria Achlorhydria Achondroplasia Achondroplasia Acinetobacter Infections Acinetobacter Infections Acne Acne Overview And Treatment Acne Keloid Acne Keloid Acoustic Neuroma Neuroma, Acoustic

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