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  1. Content type: Research

    Malignant hyperthermia (MH) is a dominantly inherited skeletal muscle disorder that can cause a fatal hypermetabolic reaction to general anaesthetics. The primary locus of MH (MHS1 locus) in humans is linked t...

    Authors: Hilbert Grievink and Kathryn M Stowell

    Citation: Orphanet Journal of Rare Diseases 2010 5:10

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  2. Content type: Review

    Surgically correctable forms of primary aldosteronism are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. Unilater...

    Authors: Laurence Amar, Pierre-François Plouin and Olivier Steichen

    Citation: Orphanet Journal of Rare Diseases 2010 5:9

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  3. Content type: Review

    Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occur...

    Authors: Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson

    Citation: Orphanet Journal of Rare Diseases 2010 5:8

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  4. Content type: Case Report

    Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It i...

    Authors: Mohammed Al-Owain, Sarar Mohamed, Namik Kaya, Ahmad Zagal, Gert Matthijs and Jaak Jaeken

    Citation: Orphanet Journal of Rare Diseases 2010 5:7

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  5. Content type: Case Report

    Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting...

    Authors: Pedro Acién, Francisco Galán, Irene Manchón, Eva Ruiz, Maribel Acién and Luis A Alcaraz

    Citation: Orphanet Journal of Rare Diseases 2010 5:6

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  6. Content type: Review

    Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth...

    Authors: Vassili Valayannopoulos, Helen Nicely, Paul Harmatz and Sean Turbeville

    Citation: Orphanet Journal of Rare Diseases 2010 5:5

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  7. Content type: Case Report

    Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease that primarily affects the hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension, and renal cysti...

    Authors: Serena Botto Poala, Gianni Bisogno and Raffaella Colombatti

    Citation: Orphanet Journal of Rare Diseases 2010 5:4

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  8. Content type: Research

    To document the epidemiological, clinical, histological and radiological characteristics of aggressive vascular abnormalities of bone in children.

    Authors: Sébastien Héritier, Martine Le Merrer, Francis Jaubert, Michèle Bigorre, Marion Gillibert-Yvert, Benoit de Courtivron, Makram Ziade, Yves Bertrand, Christian Carrie, Pascal Chastagner, Cécile Bost-Bru, Jean-Claude Léonard, Marie Ouache, Liliane Boccon-Gibod, Pierre Mary, Jacques de Blic…

    Citation: Orphanet Journal of Rare Diseases 2010 5:3

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  9. Content type: Review

    Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juv...

    Authors: Lidia Larizza, Gaia Roversi and Ludovica Volpi

    Citation: Orphanet Journal of Rare Diseases 2010 5:2

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  10. Content type: Case Report

    Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, a...

    Authors: Natalia Mejia-Gaviria, Helena Gil-Peña, Eliecer Coto, Teresa M Pérez-Menéndez and Fernando Santos

    Citation: Orphanet Journal of Rare Diseases 2010 5:1

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  11. Content type: Research

    Pulmonary alveolar proteinosis (PAP) is a syndrome with multiple etiologies and is often deadly in lysinuric protein intolerance (LPI). At present, PAP is treated by whole lung lavage or with granulocyte/monoc...

    Authors: David N Douda, Nicole Farmakovski, Sharon Dell, Hartmut Grasemann and Nades Palaniyar

    Citation: Orphanet Journal of Rare Diseases 2009 4:29

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  12. Content type: Case Report

    A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged l...

    Authors: David Cassiman, Renate Zeevaert, Elisabeth Holme, Eli-Anne Kvittingen and Jaak Jaeken

    Citation: Orphanet Journal of Rare Diseases 2009 4:28

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  13. Content type: Research

    Regulators and payers have to strike a balance between the needs of the patient and the optimal allocation of resources. Drugs indicated for rare diseases (orphan medicines) are a special group in this context...

    Authors: Pieter Stolk, Harald E Heemstra, Hubert GM Leufkens, Brigitte Bloechl-Daum and Eibert R Heerdink

    Citation: Orphanet Journal of Rare Diseases 2009 4:27

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  14. Content type: Research

    Diffuse parenchymal lung diseases (DPLD) in children represent a rare and heterogeneous group of chronic pulmonary disorders. Despite substantial advances in genetics and pathomechanisms, these often lethal di...

    Authors: Matthias Griese, Melanie Haug, Frank Brasch, Achim Freihorst, Peter Lohse, Rüdiger von Kries, Theodor Zimmermann and Dominik Hartl

    Citation: Orphanet Journal of Rare Diseases 2009 4:26

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  15. Content type: Research

    Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with othe...

    Authors: Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo and Bruno Dallapiccola

    Citation: Orphanet Journal of Rare Diseases 2009 4:25

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  16. Content type: Case Report

    Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity w...

    Authors: Bruno Drera, Marco Ritelli, Nicoletta Zoppi, Anita Wischmeijer, Maria Gnoli, Rossella Fattori, Pier Giacomo Calzavara-Pinton, Sergio Barlati and Marina Colombi

    Citation: Orphanet Journal of Rare Diseases 2009 4:24

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  17. Content type: Review

    Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC). Depending ...

    Authors: Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig and Wolfgang H Rösch

    Citation: Orphanet Journal of Rare Diseases 2009 4:23

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  18. Content type: Review

    Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1...

    Authors: Elizabeth Half, Dani Bercovich and Paul Rozen

    Citation: Orphanet Journal of Rare Diseases 2009 4:22

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  19. Content type: Case Report

    Arterial tortuosity syndrome (ATS) (OMIM #208050) is a rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries, propensity to aneur...

    Authors: Marco Ritelli, Bruno Drera, Mariano Vicchio, Giovanni Puppini, Paolo Biban, Mara Pilati, Maria Antonia Prioli, Sergio Barlati and Marina Colombi

    Citation: Orphanet Journal of Rare Diseases 2009 4:20

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  20. Content type: Review

    Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of ph...

    Authors: Mario Lecha, Hervé Puy and Jean-Charles Deybach

    Citation: Orphanet Journal of Rare Diseases 2009 4:19

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  21. Content type: Review

    Kaposi sarcoma is a low-grade mesenchymal tumor involving blood and lymphatic vessels. There are four variants of this disease, each presenting a different clinical manifestation: classic or sporadic, African ...

    Authors: Taisa Davaus Gasparetto, Edson Marchiori, Sílvia Lourenço, Gláucia Zanetti, Alberto Domingues Vianna, Alair ASMD Santos and Luiz Felipe Nobre

    Citation: Orphanet Journal of Rare Diseases 2009 4:18

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  22. Content type: Review

    Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevale...

    Authors: Jonathan T Forsey, Ola A Elmasry and Robin P Martin

    Citation: Orphanet Journal of Rare Diseases 2009 4:17

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  23. Content type: Case Report

    This case report describes for the first time acute coronary syndrome in a 67-year old patient after oral intake of naratriptan for migraine. So far in the literature, only sumatriptan, zolmitriptan and frovat...

    Authors: Claudia R Weder and Markus Schneemann

    Citation: Orphanet Journal of Rare Diseases 2009 4:15

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  24. Content type: Case Report

    We report a patient who presented with inflammatory back pain due to multisegmental spondylitis. Following a vertebral biopsy which failed to detect an infectious organism, the patient was treated with etanerc...

    Authors: David Spoerl, Diego Bär, Julian Cooper, Thomas Vogt, Alan Tyndall and Ulrich A Walker

    Citation: Orphanet Journal of Rare Diseases 2009 4:13

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  25. Content type: Research

    AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number o...

    Authors: Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2009 4:12

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  26. Content type: Review

    Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, an...

    Authors: Reha M Toydemir and Michael J Bamshad

    Citation: Orphanet Journal of Rare Diseases 2009 4:11

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  27. Content type: Research

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, which rapidly leads to chronic respiratory failure requiring mechanical ventilation. Currently, forced vital capacity (FVC) < 50% is consider...

    Authors: Pierluigi Carratù, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria and Onofrio Resta

    Citation: Orphanet Journal of Rare Diseases 2009 4:10

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  28. Content type: Review

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 bi...

    Authors: Teresa Mattina, Concetta Simona Perrotta and Paul Grossfeld

    Citation: Orphanet Journal of Rare Diseases 2009 4:9

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  29. Content type: Case Report

    Dengue hemorrhagic fever is an acute infectious disease caused by dengue virus. We described the high-resolution CT findings in a 70-year-old male with the disease, which was diagnosed by clinical examination ...

    Authors: Edson Marchiori, José LuizN Ferreira, Carolina N Bittencourt, César AdeAraújo Neto, Gláucia Zanetti, Cláudia M Mano, Alair ASD Santos and Alberto D Vianna

    Citation: Orphanet Journal of Rare Diseases 2009 4:8

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  30. Content type: Review

    The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vog...

    Authors: Gordon K Klintworth

    Citation: Orphanet Journal of Rare Diseases 2009 4:7

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  31. Content type: Research

    Hypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL). The symp...

    Authors: Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet and Agnès Bloch-Zupan

    Citation: Orphanet Journal of Rare Diseases 2009 4:6

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  32. Content type: Review

    Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of ...

    Authors: Zornitza Stark and Ravi Savarirayan

    Citation: Orphanet Journal of Rare Diseases 2009 4:5

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  33. Content type: Review

    Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations widely vary depending on the gender of the patient and on the ...

    Authors: Damien Sanlaville, Caroline Schluth-Bolard and Catherine Turleau

    Citation: Orphanet Journal of Rare Diseases 2009 4:4

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  34. Content type: Review

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, b...

    Authors: Lokesh C Wijesekera and P Nigel Leigh

    Citation: Orphanet Journal of Rare Diseases 2009 4:3

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  35. Content type: Review

    Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, overr...

    Authors: Frederique Bailliard and Robert H Anderson

    Citation: Orphanet Journal of Rare Diseases 2009 4:2

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  36. Content type: Review

    Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origi...

    Authors: Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan and Emmanuel Jacquemin

    Citation: Orphanet Journal of Rare Diseases 2009 4:1

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  37. Content type: Review

    Malignant mesothelioma is a fatal asbestos-associated malignancy originating from the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as the pericardium and the tunica vaginalis. The...

    Authors: Alastair J Moore, Robert J Parker and John Wiggins

    Citation: Orphanet Journal of Rare Diseases 2008 3:34

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  38. Content type: Research

    The Orphan Drug Act (1983) established several incentives to encourage the development of orphan drugs (ODs) to treat rare diseases and conditions. This study analyzed the characteristics of OD designations, a...

    Authors: Enrique Seoane-Vazquez, Rosa Rodriguez-Monguio, Sheryl L Szeinbach and Jay Visaria

    Citation: Orphanet Journal of Rare Diseases 2008 3:33

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  39. Content type: Review

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms.

    Authors: Lorenzo Lo Muzio

    Citation: Orphanet Journal of Rare Diseases 2008 3:32

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  40. Content type: Review

    The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence ...

    Authors: Agatino Battaglia

    Citation: Orphanet Journal of Rare Diseases 2008 3:30

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  41. Content type: Research

    Retroperitoneal fibrosis (RPF) is a rare fibroinflammatory disease that leads to hydronephrosis and renal failure. In a case-control study, we have recently shown that asbestos exposure was the most important ...

    Authors: Toomas Uibu, Ritva Järvenpää, Jari Hakomäki, Anssi Auvinen, Eero Honkanen, Kaj Metsärinne, Pekka Roto, Heikki Saha, Jukka Uitti and Panu Oksa

    Citation: Orphanet Journal of Rare Diseases 2008 3:29

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  42. 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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  43. 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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  44. 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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  45. 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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