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  1. 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

    Content type: Case Report

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  2. 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

    Content type: Review

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  3. 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

    Content type: Case Report

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  4. 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

    Content type: Review

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  5. 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

    Content type: Review

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  6. 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

    Content type: Review

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  7. 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

    Content type: Review

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  8. 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

    Content type: Review

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  9. 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

    Content type: Review

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  10. 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

    Content type: Review

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  11. 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

    Content type: Review

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  12. 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

    Content type: Review

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  13. 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

    Content type: Review

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  14. 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

    Content type: Review

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  15. 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

    Content type: Review

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  16. 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

    Content type: Review

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

  17. 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

    Content type: Review

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  18. 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

    Content type: Review

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  19. 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

    Content type: Review

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  20. Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 1...

    Authors: Geneviève Baujat and Martine Le Merrer

    Citation: Orphanet Journal of Rare Diseases 2007 2:27

    Content type: Review

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  21. Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid...

    Authors: Thomas Pusl and Ulrich Beuers

    Citation: Orphanet Journal of Rare Diseases 2007 2:26

    Content type: Review

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  22. Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is prob...

    Authors: Heinz Jungbluth

    Citation: Orphanet Journal of Rare Diseases 2007 2:25

    Content type: Review

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  23. Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea. In 86% of cas...

    Authors: Lewis Spitz

    Citation: Orphanet Journal of Rare Diseases 2007 2:24

    Content type: Review

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  24. Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the s...

    Authors: Jean Anne Connor and Ravi Thiagarajan

    Citation: Orphanet Journal of Rare Diseases 2007 2:23

    Content type: Review

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  25. Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. PNS are rare, aff...

    Authors: Jérôme Honnorat and Jean-Christophe Antoine

    Citation: Orphanet Journal of Rare Diseases 2007 2:22

    Content type: Review

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  26. Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the de...

    Authors: Henry Rosenberg, Mark Davis, Danielle James, Neil Pollock and Kathryn Stowell

    Citation: Orphanet Journal of Rare Diseases 2007 2:21

    Content type: Review

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  27. Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. ...

    Authors: Olivier Goulet, Julie Salomon, Frank Ruemmele, Natacha Patey-Mariaud de Serres and Nicole Brousse

    Citation: Orphanet Journal of Rare Diseases 2007 2:20

    Content type: Review

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  28. Pyoderma gangrenosum (PG) is a rare noninfectious neutrophilic dermatosis. Clinically it starts with sterile pustules that rapidly progress and turn into painful ulcers of variable depth and size with undermin...

    Authors: Uwe Wollina

    Citation: Orphanet Journal of Rare Diseases 2007 2:19

    Content type: Review

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  29. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. The point prevalence of this tumour is approximately 2/100,000. The o...

    Authors: Matthew R Garnett, Stéphanie Puget, Jacques Grill and Christian Sainte-Rose

    Citation: Orphanet Journal of Rare Diseases 2007 2:18

    Content type: Review

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  30. Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equ...

    Authors: Peter JM Crawford, Michael Aldred and Agnes Bloch-Zupan

    Citation: Orphanet Journal of Rare Diseases 2007 2:17

    Content type: Review

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  31. Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functio...

    Authors: Ellinor Ristoff and Agne Larsson

    Citation: Orphanet Journal of Rare Diseases 2007 2:16

    Content type: Review

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  32. Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunctio...

    Authors: Soon Koo Baik, Tamer R Fouad and Samuel S Lee

    Citation: Orphanet Journal of Rare Diseases 2007 2:15

    Content type: Review

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  33. Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and seconda...

    Authors: Michele Ceruti, Giuseppe Rodi, Giulia M Stella, Andrea Adami, Antonia Bolongaro, Aldo Baritussio, Ernesto Pozzi and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2007 2:14

    Content type: Case Report

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  34. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteri...

    Authors: Karine Morcel, Laure Camborieux and Daniel Guerrier

    Citation: Orphanet Journal of Rare Diseases 2007 2:13

    Content type: Review

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  35. Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac tumours ar...

    Authors: Orhan Uzun, Dirk G Wilson, Gordon M Vujanic, Jonathan M Parsons and Joseph V De Giovanni

    Citation: Orphanet Journal of Rare Diseases 2007 2:11

    Content type: Review

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  36. To examine the subjective health status of adults with short stature (ShSt) and compare with the general population (GP) and one well-known chronic disease, rheumatoid artritis (RA). In addition, to explore th...

    Authors: Heidi Johansen, Inger-Lise Andresen, Eva E Naess and Kare Birger Hagen

    Citation: Orphanet Journal of Rare Diseases 2007 2:10

    Content type: Research

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  37. To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q.

    Authors: Eric Scott Sills, MJ Burns, Laurinda D Parker, Lisa P Carroll, Lisa L Kephart, CS Dyer, Peter R Papenhausen and Jessica G Davis

    Citation: Orphanet Journal of Rare Diseases 2007 2:9

    Content type: Case Study

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  38. Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and t...

    Authors: Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent and Véronique David

    Citation: Orphanet Journal of Rare Diseases 2007 2:8

    Content type: Review

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  39. Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus ex...

    Authors: Christian P Hamel

    Citation: Orphanet Journal of Rare Diseases 2007 2:7

    Content type: Review

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  40. Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells. The classic osteosarcoma is a rare (0.2% of all malignan...

    Authors: Piero Picci

    Citation: Orphanet Journal of Rare Diseases 2007 2:6

    Content type: Review

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  41. DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4). The clinical phenotype shows overlap with a number of other rare syndrome...

    Authors: Bernd Gruhn, Joerg Seidel, Felix Zintl, Raymonda Varon, Holger Tönnies, Heidemarie Neitzel, Astrid Bechtold, Holger Hoehn and Detlev Schindler

    Citation: Orphanet Journal of Rare Diseases 2007 2:5

    Content type: Case Report

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  42. Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial ...

    Authors: Ineke van der Burgt

    Citation: Orphanet Journal of Rare Diseases 2007 2:4

    Content type: Review

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  43. Essential thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. The prevalence in the ge...

    Authors: Jean B Brière

    Citation: Orphanet Journal of Rare Diseases 2007 2:3

    Content type: Review

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  44. We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were short...

    Authors: Ali Al Kaissi, Franz Grill, Hatem Safi, Maher Ben Ghachem, Farid Ben Chehida and Klaus Klaushofer

    Citation: Orphanet Journal of Rare Diseases 2007 2:2

    Content type: Case Report

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