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  1. Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical hemolytic anemia, thrombocytopenia and renal impairment. Atypical HUS (aHUS) defines non Shiga-toxin-HUS and even if some authors include s...

    Authors: Chantal Loirat and Véronique Frémeaux-Bacchi
    Citation: Orphanet Journal of Rare Diseases 2011 6:60
  2. We determined whether the market exclusivity incentive of the European Orphan Drug Regulation results in a market monopoly or that absence of another Orphan Medicinal Product (OMP) for the same rare disorder, ...

    Authors: Anne EM Brabers, Ellen HM Moors, Sonja van Weely and Remco LA de Vrueh
    Citation: Orphanet Journal of Rare Diseases 2011 6:59
  3. Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C ...

    Authors: Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen and Ola H Skjeldal
    Citation: Orphanet Journal of Rare Diseases 2011 6:58
  4. VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal a...

    Authors: Benjamin D Solomon
    Citation: Orphanet Journal of Rare Diseases 2011 6:56
  5. Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum is very broad and ...

    Authors: Minke H de Ru, Jaap J Boelens, Anibh M Das, Simon A Jones, Johanna H van der Lee, Nizar Mahlaoui, Eugen Mengel, Martin Offringa, Anne O'Meara, Rossella Parini, Attilio Rovelli, Karl-Walter Sykora, Vassili Valayannopoulos, Ashok Vellodi, Robert F Wynn and Frits A Wijburg
    Citation: Orphanet Journal of Rare Diseases 2011 6:55
  6. 1q21.1 Copy Number Variant (CNV) is associated with a highly variable phenotype ranging from congenital anomalies, learning deficits/intellectual disability (ID), to a normal phenotype. Hence, the clinical sig...

    Authors: Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray, Sara Hamilton, Sandra Marles, Aziz Mhanni, Angelika J Dawson, Paul Pavlidis, Ying Qiao…
    Citation: Orphanet Journal of Rare Diseases 2011 6:54
  7. Müllerian aplasia (MA) characterized by congenital loss of functional uterus and vagina is one of the most difficult disorders of female reproductive health. Despite of growing interest in this research field,...

    Authors: Maria Sandbacka, Mervi Halttunen, Varpu Jokimaa, Kristiina Aittomäki and Hannele Laivuori
    Citation: Orphanet Journal of Rare Diseases 2011 6:53
  8. Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but extremely severe cutaneous adverse drug reactions in which drug-specific associations with HLA-B alleles were described.

    Authors: Emmanuelle Génin, Martin Schumacher, Jean-Claude Roujeau, Luigi Naldi, Yvonne Liss, Rémi Kazma, Peggy Sekula, Alain Hovnanian and Maja Mockenhaupt
    Citation: Orphanet Journal of Rare Diseases 2011 6:52
  9. To assess associations between subcutaneous neurofibromas (SC-NFs) and internal neurofibromas in patients with neurofibromatosis type 1 (NF-1) and to determine whether the association between SC-NFs and periph...

    Authors: Emilie Sbidian, Sylvie Bastuji-Garin, Laurence Valeyrie-Allanore, Salah Ferkal, Jean P Lefaucheur, Alain Drouet, Pierre Brugière, Cédric Vialette, Patrick Combemale, Sébastien Barbarot and Pierre Wolkenstein
    Citation: Orphanet Journal of Rare Diseases 2011 6:51
  10. Over 95% of rare diseases lack treatments despite many successful treatment studies in animal models. To improve access to treatments, the Accelerated Approval (AA) regulations were implemented allowing the us...

    Authors: Brigitta E Miyamoto and Emil D Kakkis
    Citation: Orphanet Journal of Rare Diseases 2011 6:49
  11. Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Adherence to a protein res...

    Authors: Amber E ten Hoedt, Carla EM Hollak, Carolien CA Boelen, N Ada P van der Herberg-van de Wetering, Nienke M ter Horst, Cora F Jonkers, Frits A Wijburg and Annet M Bosch
    Citation: Orphanet Journal of Rare Diseases 2011 6:48
  12. Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and be...

    Authors: Maïthe Tauber, Carine Mantoulan, Pierre Copet, Joseba Jauregui, Genevieve Demeer, Gwenaëlle Diene, Bernadette Rogé, Virginie Laurier, Virginie Ehlinger, Catherine Arnaud, Catherine Molinas and Denise Thuilleaux
    Citation: Orphanet Journal of Rare Diseases 2011 6:47
  13. The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due ...

    Authors: Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias Baumgartner and Cecilia Giunta
    Citation: Orphanet Journal of Rare Diseases 2011 6:46
  14. Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsuf...

    Authors: Linda Siggberg, Maarit Peippo, Marjatta Sipponen, Taina Miikkulainen, Keiko Shimojima, Toshiyuki Yamamoto, Jaakko Ignatius and Sakari Knuutila
    Citation: Orphanet Journal of Rare Diseases 2011 6:45
  15. National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the scre...

    Authors: Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Karl O Schwab, Uta Tacke, Friedrich K Trefz, Eugen Mengel, Udo Wendel, Michael Leichsenring, Peter Burgard and Georg F Hoffmann
    Citation: Orphanet Journal of Rare Diseases 2011 6:44
  16. Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate.

    Authors: Marlies J Valstar, Jan Pieter Marchal, Martha Grootenhuis, Vivian Colland and Frits A Wijburg
    Citation: Orphanet Journal of Rare Diseases 2011 6:43
  17. Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous disorder. Its exact incidence is currently unknown, and a mutation ...

    Authors: Eeva-Maria Laitinen, Kirsi Vaaralahti, Johanna Tommiska, Elina Eklund, Mari Tervaniemi, Leena Valanne and Taneli Raivio
    Citation: Orphanet Journal of Rare Diseases 2011 6:41
  18. The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid prote...

    Authors: Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs-Barrière…
    Citation: Orphanet Journal of Rare Diseases 2011 6:40
  19. Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain...

    Authors: Saqib Mahmood, Wasim Ahmad and Muhammad J Hassan
    Citation: Orphanet Journal of Rare Diseases 2011 6:39
  20. Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormaliti...

    Authors: Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Margherita Cirillo Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester V D'Addetta, Elga Belligni, Alessia Calcagnì, Maria C Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano…
    Citation: Orphanet Journal of Rare Diseases 2011 6:38
  21. The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant b...

    Authors: Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamandé and Ravi Savarirayan
    Citation: Orphanet Journal of Rare Diseases 2011 6:37
  22. Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one ...

    Authors: Marilena Briguglio, Lorenzo Pinelli, Lucio Giordano, Alessandro Ferraris, Eva Germanò, Serena Micheletti, Mariasavina Severino, Laura Bernardini, Sara Loddo, Gaetano Tortorella, Francesca Ormitti, Roberto Gasparotti, Andrea Rossi and Enza Maria Valente
    Citation: Orphanet Journal of Rare Diseases 2011 6:36
  23. Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The majority of adult patients have slowly progressive disease, which gradually impairs mobility and respiratory...

    Authors: Deniz Güngör, Juna M de Vries, Wim CJ Hop, Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg and Marloes LC Hagemans
    Citation: Orphanet Journal of Rare Diseases 2011 6:34
  24. Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyrami...

    Authors: Nathaniel Robb Whaley, Shinsuke Fujioka and Zbigniew K Wszolek
    Citation: Orphanet Journal of Rare Diseases 2011 6:33
  25. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterin...

    Authors: Katharina Rall, Gianmaria Barresi, Michael Walter, Sven Poths, Karina Haebig, Karin Schaeferhoff, Birgitt Schoenfisch, Olaf Riess, Diethelm Wallwiener, Michael Bonin and Sara Brucker
    Citation: Orphanet Journal of Rare Diseases 2011 6:32
  26. Pemphigoids are rare diseases associated with IgG, IgE and IgA autoantibodies against collagen XVII/BP180. An entity of the pemphigoid group is the lamina lucida-type of linear IgA disease (IgA pemphigoid) cha...

    Authors: Kinga Csorba, Sabine Schmidt, Florina Florea, Norito Ishii, Takashi Hashimoto, Michael Hertl, Sarolta Kárpáti, Leena Bruckner-Tuderman, Wataru Nishie and Cassian Sitaru
    Citation: Orphanet Journal of Rare Diseases 2011 6:31
  27. Hydroxyurea (HU) is the first approved pharmacological treatment of sickle cell anemia (SCA). The objectives of this study were to develop population pharmacokinetic(PK)-pharmacodynamic(PD) models for HU in or...

    Authors: Ines Paule, Hind Sassi, Anoosha Habibi, Kim PD Pham, Dora Bachir, Frédéric Galactéros, Pascal Girard, Anne Hulin and Michel Tod
    Citation: Orphanet Journal of Rare Diseases 2011 6:30
  28. Thymic epithelial tumours (thymoma and carcinoma) are exceptionally rare in children. We describe a national multicentre series with a view to illustrating their clinical behaviour and the results of treatment.

    Authors: Elena Carretto, Alessandro Inserra, Andrea Ferrari, Massimo Conte, Andrea Di Cataldo, Roberta Migliorati, Giovanni Cecchetto and Gianni Bisogno
    Citation: Orphanet Journal of Rare Diseases 2011 6:28
  29. Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, ...

    Authors: Roseline Froissart, Monique Piraud, Alix Mollet Boudjemline, Christine Vianey-Saban, François Petit, Aurélie Hubert-Buron, Pascale Trioche Eberschweiler, Vincent Gajdos and Philippe Labrune
    Citation: Orphanet Journal of Rare Diseases 2011 6:27
  30. The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe (<0.5 G/l) or mild (between 0.5-1.5 G/l), which may also affect other organ systems such a...

    Authors: Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui and Christine Bellanné Chantelot
    Citation: Orphanet Journal of Rare Diseases 2011 6:26
  31. X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) v...

    Authors: Ginevra Zanni and Enrico S Bertini
    Citation: Orphanet Journal of Rare Diseases 2011 6:24
  32. Ataxia Telangiectasia (A-T) is a rare monogenetic neurodegenerative disease with pulmonary, nutritional, and dysphagic complications. Gastrostomy tube (GT) feedings are commonly recommended to manage these co-...

    Authors: Maureen A Lefton-Greif, Thomas O Crawford, Sharon McGrath-Morrow, Kathryn A Carson and Howard M Lederman
    Citation: Orphanet Journal of Rare Diseases 2011 6:23
  33. Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascu...

    Authors: Gonzalo A Wallis, Diane Debich-Spicer and Robert H Anderson
    Citation: Orphanet Journal of Rare Diseases 2011 6:22
  34. Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for ...

    Authors: Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz El-Amraoui, Dominique Weil, Bruno Delobel, Christophe Vincent, Hélène Dollfus…
    Citation: Orphanet Journal of Rare Diseases 2011 6:21
  35. Cathepsin K (CTSK) is a member of the papain-like cysteine protease family. Mutations in the CTSK gene cause a rare autosomal recessive bone disorder called pycnodysostosis (OMIM 265800). In order to follow the a...

    Authors: Yang Xue, Tao Cai, Songtao Shi, Weiguang Wang, Yanli Zhang, Tianqiu Mao and Xiaohong Duan
    Citation: Orphanet Journal of Rare Diseases 2011 6:20
  36. Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period. Despite best current management, PA is associated with severe neurological s...

    Authors: James E Davison, Nigel P Davies, Martin Wilson, Yu Sun, Anupam Chakrapani, Patrick J McKiernan, John H Walter, P Gissen and Andrew C Peet
    Citation: Orphanet Journal of Rare Diseases 2011 6:19
  37. Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was t...

    Authors: Tu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, Cédric Vialette, Salah Ferkal, Smaïl Hadj-Rabia, Christophe Glorion, Stanislas Lyonnet, Michel Zerah, Isabelle Kemlin, Diana Rodriguez, Sylvie Bastuji-Garin and Pierre Wolkenstein
    Citation: Orphanet Journal of Rare Diseases 2011 6:18
  38. Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their...

    Authors: Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, Gemma D'Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Cristina Tomaiuolo, Stefano Petrocchi and Adriano Angioni
    Citation: Orphanet Journal of Rare Diseases 2011 6:17
  39. Orphan drugs are often approved under exceptional circumstances, requiring submission of additional data on safety and effectiveness through registries. These registries are mainly focused on one drug only and...

    Authors: Carla EM Hollak, Johannes MFG Aerts, Ségolène Aymé and Jeremy Manuel
    Citation: Orphanet Journal of Rare Diseases 2011 6:16
  40. Hughes-Stovin Syndrome (HSS) is a very rare clinical disorder characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. Less than 40 published cases of HSS have been described in Eng...

    Authors: Umair Khalid and Taimur Saleem
    Citation: Orphanet Journal of Rare Diseases 2011 6:15
  41. Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pi...

    Authors: Tawhida Y Abdel Ghaffar, Ezzat S Elsobky and Solaf M Elsayed
    Citation: Orphanet Journal of Rare Diseases 2011 6:13
  42. terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental retardation, dysmorphisms, micro...

    Authors: Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, Monica Mascaretti and Giorgio Gimelli
    Citation: Orphanet Journal of Rare Diseases 2011 6:12