61. Browsing Health Conditions And Diseases B Category Baillarger Syndrome Balanitis Baldness BardetBiedl Syndrome Barth Syndrome BasalGanglia Diseases Basilar Migraine bassen-kornzweig syndrome Batten Disease http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/B/

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62. Retinitis Pigmentosa - Questions retardation. bassenkornzweig syndrome (Abetalipoproteineinemia) RPaccompanied by progressive neurological problems. Choroideremia http://www.rpsa.org.za/a34.htm

Is RP associated with other diseases? RP is just one type of group of inherited diseases that cause degeneration of the retina. Other types include rare syndromes that can usually be diagnosed at a Retinal Clinic. They are generally genetic and follow one of the 3 primary inheritance patterns as mentioned in Number 7. Some of these syndromes are:- Bardet-Biedl (Lawrence-Moon) Syndrome: RP possibly accompanied by physical abnormality, obesity, kidney disease and mental retardation. Bassen-Kornzweig Syndrome (Abetalipoproteineinemia): RP accompanied by progressive neurological problems. Choroideremia: This disease has symptoms similar to Retinitis Pigmentosa but degeneration of both the retina and the choroid occur. Gyrate Atrophy: This disease is associated with a deficiency in the enzyme ornithine Aminotransferase. Myopia, night blindness, cataracts and loss of peripheral vision occur. Leber Congenital Amaurosis: This is characterised by severe visual impairment from birth or very early childhood. Refsum Syndrome: This is a complex disease. Hearing loss, neurological problems, dry or flaky skin can accompany RP. Patients also have oddly shaped red blood cells.

63. Encyclopædia Britannica The Web's Best Sites, bassenkornzweig syndrome iVillage Notes on this malady,its causes, signs, treatments available, and possible complications. http://www.britannica.com/search?query=cushing's syndrome&ct=igv&fuzzy=N&show=10

64. Katalog :  : Health : Conditions_and_Diseases : B :  - Netz-Tipp.De bassen-kornzweig syndrome(*); Batten Disease (*); Beckwith-Wiedemann Syndrome (*); Behcet's http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/B/

Katalog Suchmaschinen-Eintrag - kostenlos! (Anzeige) Web: Suche im ganzen Netz Spezial: Suche im Katalog Startseite Buchhandel Bibliothek Zeitung ... Suchmaschinen Kostenloser Newsletter. Bitte tragen Sie hier Ihre E-Mail-Adresse ein! Startseite Werbung Presse Rechtliches ... Impressum Partner: Voreintrag Ladezeit Link-Check Linkparade HTML-Check Startseite Welt Deutsch Anzeige: Verdienen Sie Geld mit Ihren ungenutzten Domains! Welt English Health ... Conditions and Diseases : B A B C D E F ... Eintrag in weiteren Suchmaschinen Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor In einigen Teilen modifizierte Version des DMOZ. Anzeige Sind die Domains xyz.de oder xyz.com wieder frei?

65. Health Library - Acanthocytosis report. Synonyms. bassenkornzweig syndrome; Low-Density Beta LipoproteinDeficiency. Disorder Subdivisions. None. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

66. B Information Sites Diseases@; Basilar Migraine@; bassenkornzweig syndrome@; Batten Disease@;Beckwith-Wiedemann Syndrome@; Behcet's Syndrome@; Bell's Palsy http://healthorgs.com/ConditionsandDiseases/B/

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67. Cardiotext.com | Systemic Diseases Of The Eye: Signs And Differential Diagnosis syndrome primary 135 Ataxia telangiectasia (Louis-Bar Syndrome) 135 Atopic eczema136 Bacterial endocarditis 137 bassen-kornzweig syndrome 138 BehGet disease http://www.cardiotext.com/description/isbn=0723432163&searchword=49%0A&searchop=

Search by: Keyword Title Author Start of title ISBN Sort by: Pub Date Let Us Search New Arrivals Cardiology EKG/ECG SALE! Echocardiography Electrophysiology Interventional Book of the Week ... What's this? Sign up for free e-mail news about new titles and sales. Systemic Diseases of the Eye: Signs and Differential Diagnosis 1/ed. Jack J. Kanski Mosby-Year Book Inc,Hardcover, 07-2001, 249 pages ISBN: 0723432163 Related Titles in Diagnosis, differential Rate this book Synopsis: King Edward VII Hospital, Windsor, UK. A text for ophthalmologists, outlining the ocular manifestations of systemic diseases. Also for the clinician attempting to diagnose systemic disease. Features icons to point out crucial information, and color photographs on nearly every page. Designed in three-part, sequential format. Usually ships within 12 business days. Shipping Information Request a quote for 10+ copies Cardiotext Price: Detailed Description: By Jack J Kanski MD MS FRCS FRCOphth Consultant Ophthalmic Surgeon Prince Charles Eye Unit King Edward VII Hospital Windsor UK CONTENTS Preface vii Guide to Icons vii Acknowledgements viii Part One: Differential Diagnosis of Eye Signs The eyelids 4 The orbit 7 The lacrimal gland 9 The conjunctiva 10 The sclera 16 The cornea 18 The iris 25 The lens 29 Glaucoma 32 The vitreous 32 Vascular fundus lesions 34 Inflammatory fundus lesions40 Dystrophic fundus lesions 45 Intraocular tumors 49 The optic nerve 52 Ophthalmoplegia 56 Part Two: Differential Diagnosis of Systemic Signs The face 65 The mouth 70 The skull 75 The neck 76

68. IIP-Technologies GmbH - Medizinische Aspekte - Krankheiten Treatable Forms of RP Some rare variations of Retinitis Pigmentosa like Gyrate Atrophy,RefsumSyndrome, bassen-kornzweig syndrome and Abetalipoproteinanemia http://www.iip-tec.com/iip/CMS/2Aspekte3Krankheiten/Files/2002_11_12_14_18_35/Vi

Medizinische Aspekte - Krankheiten Company Profile Retina Implant Medical Aspects Visions ... Diseases Other Degenerative Diseases of the Retina Choroideremia Choroideremia is a rare heredetary disease that is characterized by the progressive degeneration of various layers of cells in the back of the eye, namely the retina, the choroid and the retinal pigment epithelium (RPE). Usually the loss of vision starts in an irregular ring that gradually expands in both directions of the visual field. Since the disease is passed on by an x-linked pattern of inheritance, it affects almost exclusively males. Stargardt Disease Stargardt Disease is the most common form of juvenile Macular Degeneration. Similar to AMD, central vision is affected while peripheral vision remains largely intact. The disease is usually inherited in an autosominal recessive mode which means that both parents carry one healthy and one affected gene each. Only if a child receives two affected genes by the parents (in 25% of the cases) the disease will develop. Best Disease Best Disease - also known as vitelliform macular dystrophy - is characterized by a loss of central vision similar to other forms of macular degeneration. Usually the disease is diagnosed in childhood. In the initial stages, a bright yellow cyst (fluid-filled sac) forms under the retinal pigment epithelium (RPE) beneath the macula which looks like a sunny-side-up egg. Despite this condition, visual acuity may remain normal or sufficient for many years. In many cases the cyst eventually ruptures which causes further vision loss. However, Best Disease does not always affect both eyes and sometimes it does not progress far enough to cause severe vision loss. The disease follows an autosomal dominant pattern of inheritance so that one affected gene suffices for the condition to develop.

69. Book Review The book is organized alphabetically by topic headings, starting and ending witha syndrome – abetalipoproteinemia (bassenkornzweig syndrome) as the first http://www.cmj.hr/index.php?P=1248

70. GASNet Anesthesiology: Bassen - Kornzweig Syndrome Bassen Kornzweig syndrome - symptoms and caveats Bassen - Kornzweig syndrome. ·. Autosomal recessive beta-lipoprotein deficiency http://gasnet.med.yale.edu/pediatric-syndromes/bassen-kornzweig.php

71. Bassen-Kornzweig (syndrome De) Translate this page bassen-kornzweig (syndrome de). Maladie congénitale, héréditaire, secaractérisant par l'absence de béta-lipoprotéines dans le sang. http://www.vulgaris-medical.com/textb/bassenko.htm

Bassen-Kornzweig (syndrome de) Elle se manifeste chez le nourrisson par : un retard de croissance un aspect anormal des globules rouges (acanthocytose) Son pronostic est grave.

72. Liste B Translate this page de) Baruk (attaque du gyrus uncinatus de) Baryte Basex (acrokératose paranéoplasique)Basedow (maladie de) bassen-kornzweig (syndrome de) Bassin Bassinet http://www.vulgaris-medical.com/listb.html

Recherche dans cette liste Menu document.write('ACCESA UXRUBRIQUES') B Baader(syndrome de) Babésiose Babinski Baby blues ... By-pass gastrique

73. RP: Syndrome Und Sonderformen - @med1 bassen-kornzweig-Syndrom(a-ß-Lipoproteinämie); Refsum-Syndrom. Atrophia gyrata. Bei http://www.med1.de/Laien/Krankheiten/Augen/Retinitis.Pigmentosa/Syndrome/

Experten Laien Forum News Home Das schau' ich mir an Laien Krankheiten Augen ... oben beschrieben. Assoziierte RP oder Syndrome stark lichtempfindliche oder schuppende Haut geistige Unterentwicklung Zystennieren In dieser Gruppe gibt es eine Vielzahl von Erkrankungen. Die Auswahl der Wichtigsten: Usher Syndrom Refsum-Syndrom Bardet-Biedl-Syndrom Refsum-Syndrom behandelbaren Sonderformen der Retinitis pigmentosa. Bardet-Biedl-Syndrom Besondere Formen der Netzhaut- degeneration Lebersche Tapetoretinale Dystrophie behandelbaren Sonderformen der Retinitis pigmentosa) Chorioideremie Behandelbare Sonderformen der RP Atrophia gyrata Refsum-Syndrom Atrophia gyrata Refsum-Syndrom DRPV Makula- degeneration Beispiele sind: Altersbedingte Makuladegeneration , Stargardt'sche Makuladystrophie, Zapfendystrophie u.a.. Deutsche Retinitis Pigmentosa-Vereinigung Das interessiert mich

74. Was Ist RP ? syndrome Usher Syndrom; Atrophiagyrata; bassen-kornzweig-Syndrom (Abetalipoproteinämie); Refsum-Syndrom. http://www.gsi.de/~schuell/rp/was_inh.html

75. Syndrome Mit Netzhaut-Aderhautdystrophien Translate this page Usher syndrome, Kearns-Sayre Syndrom, Laurence-Moon-Bardet-Biedl Syndrom. Sehrselten Refsum Syndrom, Abetalipoproteinämie (bassen-kornzweig Syndrom). http://retinadiagnostic.de/krank_kell/syndrome_index.html

aktualisiert: 27.12.2002 9 Syndrome mit Netzhaut-Aderhautdystrophien Usher Syndrom Kearns-Sayre Syndrom Laurence Moon Bardet Biedl Syndrom Refsum Syndrom ... Andere Syndrome: seltene Syndrome in alphabetischer Auflistung Usher Syndrom Genetik: Autosomal rezessiv: Mutationen in folgenden Genen: CDH23 (Typ 1d; 56%), MYO7A (Typ 1b), PCDH15 (Typ 1f), USH1C (Typ 1c), USH2A (Typ 2a), USH3A (Typ 3a) Weitere chromosomale Genlokalisationen: USH1A, USH1E, USH1G, USH2B, USH2C Hinweis: bei Mutation in einigen Genen kann auch eine Einzelsyptomatik auftreten (Familienanamnese!): Symptomatik: Klinische Befunde: Funktionelle Untersuchungen: ERG: Typ 1: erloschen, Typ 2: stark reduziert bis erloschen Besonderheiten: zum Seitenanfang Kearns-Sayre Syndrom Genetik: mitochondriale Vererbung (KSS) Symptomatik: Klinische Befunde: Funktionelle Untersuchungen: Visus: variable Reduktion EOG: normaler bis fehlender Hellanstieg Besonderheiten: zum Seitenanfang (Laurence-Moon-)Bardet-Biedl Syndrom Genetik: Autosomal rezessiv: Mutationen in folgenden Genen: BBS1, BBS2 (20%), BBS4 (3-6%), MKKS weitere chromosomale Genlokalisationen: BBS3, BBS5

76. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli Translate this page syndrome de Bart pumphrey syndrome de Bartsocas papas syndrome Bartter, syndromede Basan syndrome de Basaran yilmaz syndrome de bassen-kornzweig, maladie de http://www.orpha.net/Pat/FRB.html

Liste des maladies commençant par B Babésiose Bader syndrome de Baelz syndrome de Bagatelle cassidy syndrome ... Butyryl-cholinestérase, déficit en

77. Fiches Medicales Translate this page MALADIE D'OGUCHI. MALADIE DE bassen-kornzweig - (ABETALIPOPROTEINEMIE).MALADIE DE BECHET. MALADIE DE WAGNER - syndrome DE STICKLER. http://www.retina-france.asso.fr/fiches-medicales.html

RETINA FRANCE carte de membre actif ACHROMATOPSIE. ALBINISME. ALTERATION MACULAIRE PAR CONTRACTION D'UNE MEMBRANE EPIRETINIENNE - (SYNDROME DE JAFFE). ALTERATIONS VISUELLES. AMAUROSE CONGENITALE DE LEBER. AMBLYOPIE. ANIRIDIE. ASTIGMATISME. ATAXIE TELANGIECTASIE (TELANGIECTASIES OCULAIRES). ATROPHIES OPTIQUES. CARNICOME BASO-CELLULAIRE DES PAUPIERES. CATARACTE. CATARACTE COMPLIQUEE DANS LA RP. CATARACTE ET LUMIERE. CATARACTE SECONDAIRE. CECITE CORTICALE. CHORIORETINITE SEREUSE CENTRALE (CHORIORETINOPATHIE). CHORIORETINITE TOXOPLASMIQUE (CHORIORETINOPATHIE). CHORIORETINITE VITILIGINEUSE (BIRD-SHOT CHORIORETINOPATHY) (CHORIORETINOPATHIE). CHORIORETINOPATHIES. CHOROIDEREMIE (CHOROIDOSE CHOROIDITE). CHOROIDITE MULTIFOCALE. COLOBOMES. COMPLICATION DE LA MYOPIE DEGENERATIVE. COMPLICATION DU DECOLLEMENT POSTERIEUR DU VITRE PAR COLLAPSUS. COMPLICATIONS OPHTALMOLOGIQUES DE LA MALADIE DE BASEDOW. CORNEA GUTTATA. CORRECTION DE LA MYOPIE PAR LA CHIRURGIE. DECHIRURE RETINIENNE (TROU MACULAIRE). DECOLLEMENT CHOROIDIEN. DECOLLEMENT DE RETINE. DECOLLEMENT DE RETINE PAR TROU MACULAIRE (TRAITEMENT).

78. Abêtalipoprotéinémie : Sites Et Documents Francophones Translate this page Synonyme(s) bassen-kornzweig, syndrome. Voir aussi apolipoprotéineB . Ne pas confondre avec hypobêtalipoprotéinémie . http://www.chu-rouen.fr/ssf/pathol/abetalipoproteinemie.html

Abêtalipoprotéinémie Menu général CISMeF Définition [MeSH Scope Note ; traduction CISMeF] : perturbation héréditaire du métabolisme lipidique caractérisée par la quasi-absence d'apolipoprotéines B et de bêtalipoprotéines dans le plasma. La protéine microsomale de transfert des triglycérides est déficitaire ou absente dans les entérocytes. Les résultats cliniques et de laboratoire incluent acanthocytose, hypocholestérolémie, neuropathie périphérique, dégénération de colonne postérieure, ataxie et stéatorrhée. Les capacités intellectuelles peuvent aussi être diminuées. Synonyme(s) bassen-kornzweig, syndrome Voir aussi apolipoprotéine B Ne pas confondre avec hypobêtalipoprotéinémie Arborescence(s) abêtalipoprotéinémie abetalipoproteinemia hémopathies et maladies lymphatiques maladies et malformations congénitales, héréditaires et néonatales métabolisme et nutrition, maladies système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Abêtalipoprotéinémie - synonyme et inclusion : Bassen-Kornzweig, maladie de

79. Svenska RP-föreningen: Refsums Sjukdom Two articles about this disease, clinical description, inheritance, treatment and related diseases Category Health Conditions and Diseases Refsum s...... bassenkornzweig disease, also known as abetalipoproteinemia, is characterizedby Kearns-Sayre syndrome involves retinal degeneration, ptosis (drooping of http://www.srpf.a.se/forsk/refsum.html

Svenska RP-föreningen 1. A clinical description of Refsum Syndrome. by Tom Hoglund, Science Information Manager, Foundation Fighting Blindness publiced RPLIST Fri, 15 Jan 1999. INFORMATION ABOUT REFSUM DISEASE Refsum disease is an extremely rare and complex disorder that affects many parts of the body. A form of the retinal degenerative disease known as retinitis pigmentosa (RP) is a common feature of this disease. CLINICAL DESCRIPTION Individuals with Refsum disease are unable to metabolize phytanic acid. As a result, high levels of phytanic acid accumulate in blood and tissue. It is thought that disorders associated with this disease result from harmful levels of phytanic acid. Phytanic acid is found in meat, fish, and dairy products. The body also converts phytol, a substance found in green leafy vegetables, to phytanic acid. Refsum disease is usually diagnosed during childhood or young adulthood when vision problems due to RP become apparent. Progressive vision loss from RP begins when harmful levels of phytanic acid collect beneath the retina. The retina is essential to vision as it converts light into electrical impulses and then transfers these impulses to the brain via the optic nerve. The first symptom of RP is night blindness followed by a gradual loss of peripheral (side) vision. Night blindness makes vision difficult in dark or dimly lit places. The loss of peripheral vision is often referred to as tunnel vision. RP tends to progress slowly in patients with Refsum disease.

80. Birth Disorder Information Directory - A Deficiency/Defect Anomalad/syndrome See Prune Belly syndrome. Abetalipoproteinemia(Bassen Kornzweig syndrome) List of Sites. Ablepharon http://www.bdid.com/defectaa.htm

HOME Aa-Af Aagenaes Syndrome (Cholestasis-Lymphedema Syndrome) Cholestasis with lymphedema (Aagenaes syndrome) Aagenaes* Syndrom Aagenaes aagenaes syndrome ... Aagenaes* Syndrom Aarskog (Scott) Syndrome (Faciodigitogenital Syndrome, Faciogenital Dysplasia) List of Sites Aarskog-Like Syndrome (Faciodigitogenital Syndrome, Recessive Form; Teebi Naguib Alawadi Syndrome) Aarskog like syndrome FACIODIGITOGENITAL SYNDROME, RECESSIVE Aarskog Ose Pande Syndrome (Lipodystrophy Rieger Anomaly Diabetes) Aarskog ose pande syndrome LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY, SHORT STATURE, AND INSULINOPENIC DIABETES MELLITUS AASE Syndrome (Anemia with Triphalangeal Thumbs) List of Sites AASE Smith Syndrome (Hydrocephalus with Cleft Palate and Joint Contractures) AASE-Smith - Hydrocephalus; Cleft Palate; Joint Contractures AASE-SMITH SYNDROME AASE Smith Aase-Smith syndrome ABCD Syndrome (Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness) abcd syndrome ABCD SYNDROME Abdallat Davis Farrage Syndrome (Neurocutaneous Syndrome, Abdallat Type; Spastic Paraplegia-Pigmentary Abnormalities) Abdallat (1980) - Neurocutaneous Syndrome SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES abdallat davis farrage syndrome abdallat davis farrage syndrome Abdominal Muscle Absence/Aplasia/Deficiency/Defect Anomalad/Syndrome See Prune Belly Syndrome Abetalipoproteinemia (Bassen Kornzweig Syndrome) List of Sites Ablepharon -Ichthyosis Syndrome Ablepharon-Ichthyosis -Macrostomia Syndrome Allison has AMS (Has a photo gallery)

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