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  1. Content type: Review

    Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA) discordance...

    Authors: Paula Martins and Eduardo Castela

    Citation: Orphanet Journal of Rare Diseases 2008 3:27

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  2. Content type: Review

    Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.

    Authors: Heinz Jungbluth, Carina Wallgren-Pettersson and Jocelyn Laporte

    Citation: Orphanet Journal of Rare Diseases 2008 3:26

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  3. Content type: Review

    Mixed cryoglobulinemia (MC), type II and type III, refers to the presence of circulating cryoprecipitable immune complexes in the serum and manifests clinically by a classical triad of purpura, weakness and ar...

    Authors: Clodoveo Ferri

    Citation: Orphanet Journal of Rare Diseases 2008 3:25

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  4. Content type: Research

    Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and ...

    Authors: David Moore, Martin J Connock, Ed Wraith and Christine Lavery

    Citation: Orphanet Journal of Rare Diseases 2008 3:24

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  5. Content type: Review

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excre...

    Authors: Nine VAM Knoers and Elena N Levtchenko

    Citation: Orphanet Journal of Rare Diseases 2008 3:22

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  6. Content type: Review

    Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately ...

    Authors: Dag Malm and Øivind Nilssen

    Citation: Orphanet Journal of Rare Diseases 2008 3:21

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  7. Content type: Review

    Cluster headache (CH) is a primary headache disease characterized by recurrent short-lasting attacks (15 to 180 minutes) of excruciating unilateral periorbital pain accompanied by ipsilateral autonomic signs (...

    Authors: Elizabeth Leroux and Anne Ducros

    Citation: Orphanet Journal of Rare Diseases 2008 3:20

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  8. Content type: Case Report

    Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble ...

    Authors: Rola Zamel, Razi Khan, Rebecca L Pollex and Robert A Hegele

    Citation: Orphanet Journal of Rare Diseases 2008 3:19

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  9. Content type: Review

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is esti...

    Authors: Lia Crotti, Giuseppe Celano, Federica Dagradi and Peter J Schwartz

    Citation: Orphanet Journal of Rare Diseases 2008 3:18

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  10. Content type: Review

    Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifes...

    Authors: Philippe Chanson and Sylvie Salenave

    Citation: Orphanet Journal of Rare Diseases 2008 3:17

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  11. Content type: Review

    Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types ...

    Authors: Samia A Temtamy and Mona S Aglan

    Citation: Orphanet Journal of Rare Diseases 2008 3:15

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  12. Content type: Review

    The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated...

    Authors: Mary C Phelan

    Citation: Orphanet Journal of Rare Diseases 2008 3:14

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  13. Content type: Review

    LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, ...

    Authors: Anna Sarkozy, Maria Cristina Digilio and Bruno Dallapiccola

    Citation: Orphanet Journal of Rare Diseases 2008 3:13

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  14. Content type: Review

    McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence ...

    Authors: Claudia E Dumitrescu and Michael T Collins

    Citation: Orphanet Journal of Rare Diseases 2008 3:12

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  15. Content type: Review

    In recent years, the use of adaptive design methods in clinical research and development based on accrued data has become very popular due to its flexibility and efficiency. Based on adaptations applied, adapt...

    Authors: Shein-Chung Chow and Mark Chang

    Citation: Orphanet Journal of Rare Diseases 2008 3:11

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  16. Content type: Review

    The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (e...

    Authors: Leslie G Biesecker

    Citation: Orphanet Journal of Rare Diseases 2008 3:10

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  17. Content type: Review

    The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just ...

    Authors: Sivakumar Sathasivam

    Citation: Orphanet Journal of Rare Diseases 2008 3:9

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  18. Content type: Review

    Idiopathic pulmonary fibrosis (IPF) is a non-neoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known provocation. IPF is a rare disease w...

    Authors: Eric B Meltzer and Paul W Noble

    Citation: Orphanet Journal of Rare Diseases 2008 3:8

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  19. Content type: Review

    Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, ...

    Authors: Michaela Auer-Grumbach

    Citation: Orphanet Journal of Rare Diseases 2008 3:7

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  20. Content type: Review

    : Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrit...

    Authors: Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer and Jean-Pierre Cézard

    Citation: Orphanet Journal of Rare Diseases 2008 3:6

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  21. Content type: Review

    Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy le...

    Authors: Stéphane Vignes and Jérôme Bellanger

    Citation: Orphanet Journal of Rare Diseases 2008 3:5

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  22. Content type: Review

    Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest f...

    Authors: Catherine Turleau

    Citation: Orphanet Journal of Rare Diseases 2008 3:4

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  23. Content type: Review

    Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be hi...

    Authors: Judith VMG Bovée

    Citation: Orphanet Journal of Rare Diseases 2008 3:3

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  24. Content type: Case Report

    Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of...

    Authors: Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban and Nathalie Guffon

    Citation: Orphanet Journal of Rare Diseases 2008 3:2

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  25. Content type: Review

    Primary biliary cirrhosis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver fai...

    Authors: Teru Kumagi and EJenny Heathcote

    Citation: Orphanet Journal of Rare Diseases 2008 3:1

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  26. Content type: Case Report

    Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hea...

    Authors: Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele and Paul N Durrington

    Citation: Orphanet Journal of Rare Diseases 2007 2:49

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  27. Content type: Review

    Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 populat...

    Authors: Amit S Verma and David R FitzPatrick

    Citation: Orphanet Journal of Rare Diseases 2007 2:47

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  28. Content type: Review

    Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. It is an ubiquitous disease with incidence (varying according to age, sex, race ...

    Authors: Hilario Nunes, Diane Bouvry, Paul Soler and Dominique Valeyre

    Citation: Orphanet Journal of Rare Diseases 2007 2:46

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  29. Content type: Review

    Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from...

    Authors: Gaetano Thiene, Domenico Corrado and Cristina Basso

    Citation: Orphanet Journal of Rare Diseases 2007 2:45

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  30. Content type: Review

    Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscl...

    Authors: Vern C Juel and Janice M Massey

    Citation: Orphanet Journal of Rare Diseases 2007 2:44

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  31. Content type: Review

    Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism ...

    Authors: Karen Grønskov, Jakob Ek and Karen Brondum-Nielsen

    Citation: Orphanet Journal of Rare Diseases 2007 2:43

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  32. Content type: Review

    Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle par...

    Authors: Livia Garavelli and Paola Cerruti Mainardi

    Citation: Orphanet Journal of Rare Diseases 2007 2:42

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  33. Content type: Review

    Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle. The exact inciden...

    Authors: Roxane McKay

    Citation: Orphanet Journal of Rare Diseases 2007 2:41

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  34. Content type: Review

    Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the dis...

    Authors: Etienne Mornet

    Citation: Orphanet Journal of Rare Diseases 2007 2:40

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  35. Content type: Review

    Idiopathic achalasia is a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition. It is a rare disease wi...

    Authors: Farnoosh Farrokhi and Michael F Vaezi

    Citation: Orphanet Journal of Rare Diseases 2007 2:38

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  36. Content type: Review

    Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months) associated with e...

    Authors: Florence E Roufosse, Michel Goldman and Elie Cogan

    Citation: Orphanet Journal of Rare Diseases 2007 2:37

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  37. Content type: Review

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, an...

    Authors: Geneviève Baujat and Valérie Cormier-Daire

    Citation: Orphanet Journal of Rare Diseases 2007 2:36

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  38. Content type: Review

    Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial ce...

    Authors: David A Jacobsohn and Georgia B Vogelsang

    Citation: Orphanet Journal of Rare Diseases 2007 2:35

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  39. Content type: Review

    Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in...

    Authors: Marc A Levitt and Alberto Peña

    Citation: Orphanet Journal of Rare Diseases 2007 2:33

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    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2012 7:98

  40. Content type: Review

    Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucen...

    Authors: Dominique P Germain

    Citation: Orphanet Journal of Rare Diseases 2007 2:32

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  41. Content type: Review

    Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. Marked cli...

    Authors: Heinz Jungbluth

    Citation: Orphanet Journal of Rare Diseases 2007 2:31

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  42. Content type: Review

    Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prev...

    Authors: Pierre-François Plouin, Jérôme Perdu, Agnès La Batide-Alanore, Pierre Boutouyrie, Anne-Paule Gimenez-Roqueplo and Xavier Jeunemaitre

    Citation: Orphanet Journal of Rare Diseases 2007 2:28

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