Skip to content

Advertisement

Articles

Page 39 of 39

  1. Content type: Review

    Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. The molecular basis is linked to quantitativ...

    Authors: Alan T Nurden

    Citation: Orphanet Journal of Rare Diseases 2006 1:10

    Published on:

  2. Content type: Review

    Idiopathic chronic eosinophilic pneumonia (ICEP) is characterized by subacute or chronic respiratory and general symptoms, alveolar and/or blood eosinophilia, and peripheral pulmonary infiltrates on chest imag...

    Authors: Eric Marchand and Jean-François Cordier

    Citation: Orphanet Journal of Rare Diseases 2006 1:11

    Published on:

  3. Content type: Review

    Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea). ...

    Authors: Paolo Beck-Peccoz and Luca Persani

    Citation: Orphanet Journal of Rare Diseases 2006 1:9

    Published on:

  4. Content type: Review

    Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterised by an ostium primum atrial septal defect, a common atrioventricular valve and a variable de...

    Authors: Raffaele Calabrò and Giuseppe Limongelli

    Citation: Orphanet Journal of Rare Diseases 2006 1:8

    Published on:

  5. Content type: Review

    Dopamine beta-hydroxylase (DβH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma...

    Authors: Jean-Michel Senard and Philippe Rouet

    Citation: Orphanet Journal of Rare Diseases 2006 1:7

    Published on:

  6. Content type: Review

    Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease, which is autoimmune in origin and is characterized by the presence of autoantibodies directed against nuclear antigens. It is a multi-s...

    Authors: Jessica J Manson and Anisur Rahman

    Citation: Orphanet Journal of Rare Diseases 2006 1:6

    Published on:

  7. Content type: Review

    The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodon...

    Authors: Agnès Bloch-Zupan and Jane R Goodman

    Citation: Orphanet Journal of Rare Diseases 2006 1:5

    Published on:

  8. Content type: Review

    Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins...

    Authors: Wolfgang Holtmeier and Wolfgang F Caspary

    Citation: Orphanet Journal of Rare Diseases 2006 1:3

    Published on: