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  1. Oral sub mucous fibrosis is a rare chronic, progressive, pre malignant collagen disorder of oral mucosa in people of Asian descent characterized by trismus, blanching and stiffness of mucosa, burning sensation...

    Authors: Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich and Majeed Rana
    Citation: Orphanet Journal of Rare Diseases 2013 8:56

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:86

  2. Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/AFAP), ...

    Authors: Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos, Ana Cristina Victorino Krepischi, Maria Isabel Waddington Achatz, Samuel Aguiar Junior, Benedito Mauro Rossi and Dirce Maria Carraro
    Citation: Orphanet Journal of Rare Diseases 2013 8:54
  3. Pulmonary alveolar proteinosis (PAP) is a rare disorder characterised by abundant alveolar accumulation of surfactant lipoproteins. Serum levels of KL-6, high molecular weight human MUC1 mucin, are increased i...

    Authors: Francesco Bonella, Shinichiro Ohshimo, Cai Miaotian, Matthias Griese, Josune Guzman and Ulrich Costabel
    Citation: Orphanet Journal of Rare Diseases 2013 8:53
  4. Malignant atrophic papulosis (Köhlmeier-Degos disease; MAP) is an uncommon endotheliopathy with pathological findings similar to the vascular lesions of systemic sclerosis. These two disorders can overlap. Whe...

    Authors: Lee S Shapiro, Aixa E Toledo-Garcia and Jessica F Farrell
    Citation: Orphanet Journal of Rare Diseases 2013 8:52
  5. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to th...

    Authors: Marion M Brands, Marianne Hoogeveen-Westerveld, Marian A Kroos, Willemieke Nobel, George J Ruijter, Lale Özkan, Iris Plug, Daniel Grinberg, Lluïsa Vilageliu, Dicky J Halley, Ans T van der Ploeg and Arnold J Reuser
    Citation: Orphanet Journal of Rare Diseases 2013 8:51
  6. Primary hyperparathyroidism (PHPT) is most commonly sporadic (sPHPT). However, sometimes PHPT develops as part of multiple endocrine neoplasia (MEN) type 1 or 2A. In all, parathyroidectomy is the only curative...

    Authors: Bas A Twigt, Anouk Scholten, Gerlof D Valk, Inne HM Borel Rinkes and Menno R Vriens
    Citation: Orphanet Journal of Rare Diseases 2013 8:50
  7. The editors of Orphanet Journal of Rare Diseases would like to thank all our reviewers who have contributed to the journal in volume 7 (2012).

    Authors: Ségolène Aymé
    Citation: Orphanet Journal of Rare Diseases 2013 8:39
  8. Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in...

    Authors: Deniz Güngör, Michelle E Kruijshaar, Iris Plug, Ralph B D’Agostino, Marloes LC Hagemans, Pieter A van Doorn, Arnold JJ Reuser and Ans T van der Ploeg
    Citation: Orphanet Journal of Rare Diseases 2013 8:49
  9. Small clinical trials are necessary when there are difficulties in recruiting enough patients for conventional frequentist statistical analyses to provide an appropriate answer. These trials are often necessar...

    Authors: Catherine Cornu, Behrouz Kassai, Roland Fisch, Catherine Chiron, Corinne Alberti, Renzo Guerrini, Anna Rosati, Gerard Pons, Harm Tiddens, Sylvie Chabaud, Daan Caudri, Clément Ballot, Polina Kurbatova, Anne-Charlotte Castellan, Agathe Bajard and Patrice Nony
    Citation: Orphanet Journal of Rare Diseases 2013 8:48
  10. Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme r...

    Authors: Saskia M Rombach, Bouwien E Smid, Machtelt G Bouwman, Gabor E Linthorst, Marcel G W Dijkgraaf and Carla E M Hollak
    Citation: Orphanet Journal of Rare Diseases 2013 8:47
  11. Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrom...

    Authors: James D Weisfeld-Adams, Lakshmi Mehta, Janet C Rucker, Francine R Dembitzer, Arnold Szporn, Fred D Lublin, Wendy J Introne, Vikas Bhambhani, Michael C Chicka and Catherine Cho
    Citation: Orphanet Journal of Rare Diseases 2013 8:46
  12. Moyamoya Disease is a rare, devastating cerebrovascular disorder characterized by stenosis/occlusion of supraclinoid internal carotid arteries and development of fragile collateral vessels. Moyamoya Disease is...

    Authors: Tara K Sigdel, Lorelei D Shoemaker, Rong Chen, Li Li, Atul J Butte, Minnie M Sarwal and Gary K Steinberg
    Citation: Orphanet Journal of Rare Diseases 2013 8:45
  13. Spinal muscular atrophy (SMA) is the most common lethal recessive disease in childhood, and there is currently no effective treatment to halt disease progression. The translation of scientific advances into ef...

    Authors: Nathalie Kayadjanian, Arthur Burghes, Richard S Finkel, Eugenio Mercuri, Francoise Rouault, Inge Schwersenz and Kevin Talbot
    Citation: Orphanet Journal of Rare Diseases 2013 8:44
  14. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal scr...

    Authors: Catharina ML Touw, G Peter A Smit, Klary E Niezen-Koning, Conny Bosgraaf-de Boer, Albert Gerding, Dirk-Jan Reijngoud and Terry GJ Derks
    Citation: Orphanet Journal of Rare Diseases 2013 8:43
  15. Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulat...

    Authors: Young Bae Sohn, Sung Yoon Cho, Sung Won Park, Su Jin Kim, Ah-Ra Ko, Eun-Kyung Kwon, Sun Ju Han and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2013 8:42
  16. Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. Here we aimed to enlarg...

    Authors: Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn, Jan Senderek, Karl-Titus Hoffmann, Patrick MacLeod, Johannes Schwarz, Benjamin Bender, Stefan Krüger…
    Citation: Orphanet Journal of Rare Diseases 2013 8:41
  17. Pulmonary alveolar proteinosis (PAP) is a term defining an ultra-rare group of disorders characterised by a perturbation in surfactant homeostasis, resulting in its accumulation within airspaces and impaired g...

    Authors: Ilaria Campo, Francesca Mariani, Giuseppe Rodi, Elena Paracchini, Eric Tsana, Davide Piloni, Isabella Nobili, Zamir Kadija, Angelo Corsico, Isa Cerveri, Claudia Chalk, Bruce C Trapnell, Antonio Braschi, Carmine Tinelli and Maurizio Luisetti
    Citation: Orphanet Journal of Rare Diseases 2013 8:40
  18. Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information...

    Authors: Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O’Hara, Leo Ruiz Casas and Fiona M Smith
    Citation: Orphanet Journal of Rare Diseases 2013 8:38
  19. Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a...

    Authors: Serwet Demirdas, Imke N van Kessel, Marjolein J Korndewal, Carla EM Hollak, Hanka Meutgeert, Anja Klaren, Margreet van Rijn, Francjan J van Spronsen and Annet M Bosch
    Citation: Orphanet Journal of Rare Diseases 2013 8:37
  20. Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, ...

    Authors: Smail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard, Julie De Backer, Fransiska Malfait, Olivier M Vanakker, Paul J Coucke, Anne M De Paepe and Christine Bodemer
    Citation: Orphanet Journal of Rare Diseases 2013 8:36
  21. The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of ...

    Authors: Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S Ory, Eugen Mengel, Christine Fischer and Heiko Runz
    Citation: Orphanet Journal of Rare Diseases 2013 8:35
  22. Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other...

    Authors: Natascha Bergamin, Andrea Dardis, Antonio Beltrami, Daniela Cesselli, Silvia Rigo, Stefania Zampieri, Rossana Domenis, Bruno Bembi and Carlo Alberto Beltrami
    Citation: Orphanet Journal of Rare Diseases 2013 8:34
  23. The biology of small cell ovarian carcinoma of the hypercalcemic type (SCCOHT), which is a rare and aggressive form of ovarian cancer, is poorly understood. Tumourigenicity, in vitro growth characteristics, genet...

    Authors: Lisa F Gamwell, Karen Gambaro, Maria Merziotis, Colleen Crane, Suzanna L Arcand, Valerie Bourada, Christopher Davis, Jeremy A Squire, David G Huntsman, Patricia N Tonin and Barbara C Vanderhyden
    Citation: Orphanet Journal of Rare Diseases 2013 8:33
  24. Chronic lymphocytic leukemia (CLL) is a slowly progressing but fatal disease that imposes a high economic burden on sickness funds and society. The objective of this study was to analyze and compare the direct...

    Authors: Carl Rudolf Blankart, Taika Koch, Roland Linder, Frank Verheyen, Jonas Schreyögg and Tom Stargardt
    Citation: Orphanet Journal of Rare Diseases 2013 8:32
  25. Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and vari...

    Authors: Yukio Ando, Teresa Coelho, John L Berk, Márcia Waddington Cruz, Bo-Göran Ericzon, Shu-ichi Ikeda, W David Lewis, Laura Obici, Violaine Planté-Bordeneuve, Claudio Rapezzi, Gerard Said and Fabrizio Salvi
    Citation: Orphanet Journal of Rare Diseases 2013 8:31
  26. Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease is caused by muta...

    Authors: Sara Luscieti, Gabriele Tolle, Jessica Aranda, Carmen Benet Campos, Frank Risse, Érica Morán, Martina U Muckenthaler and Mayka Sánchez
    Citation: Orphanet Journal of Rare Diseases 2013 8:30
  27. The concept of individual burden, associated with disease, has been introduced recently to determine the “disability” caused by the pathology in the broadest sense of the word (psychological, social, economic,...

    Authors: Hélène Dufresne, Smail Hadj-Rabia, Cécile Méni, Vincent Sibaud, Christine Bodemer and Charles Taïeb
    Citation: Orphanet Journal of Rare Diseases 2013 8:28
  28. Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria. It is caused by mutations in the TA...

    Authors: Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini and Amelia Morrone
    Citation: Orphanet Journal of Rare Diseases 2013 8:27
  29. Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most promi...

    Authors: Maggie C Walter, Peter Reilich, Simone Thiele, Joachim Schessl, Herbert Schreiber, Karlheinz Reiners, Wolfram Kress, Clemens Müller-Reible, Matthias Vorgerd, Peter Urban, Bertold Schrank, Marcus Deschauer, Beate Schlotter-Weigel, Ralf Kohnen and Hanns Lochmüller
    Citation: Orphanet Journal of Rare Diseases 2013 8:26
  30. Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neuro...

    Authors: Valentina Citton, Angela Favaro, Vera Bettini, Joseph Gabrieli, Gabriella Milan, Nella Augusta Greggio, Jan D Marshall, Jürgen K Naggert, Renzo Manara and Pietro Maffei
    Citation: Orphanet Journal of Rare Diseases 2013 8:24
  31. First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary exc...

    Authors: Sarah LN Clarke, Ann Bowron, Iris L Gonzalez, Sarah J Groves, Ruth Newbury-Ecob, Nicol Clayton, Robin P Martin, Beverly Tsai-Goodman, Vanessa Garratt, Michael Ashworth, Valerie M Bowen, Katherine R McCurdy, Michaela K Damin, Carolyn T Spencer, Matthew J Toth, Richard I Kelley…
    Citation: Orphanet Journal of Rare Diseases 2013 8:23
  32. Families of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and exte...

    Authors: Matilda Anderson, Elizabeth J Elliott and Yvonne A Zurynski
    Citation: Orphanet Journal of Rare Diseases 2013 8:22
  33. Congenital Hyperinsulinism is a condition with a number of genetic causes, but for the majority of patients, the underlying aetiology is unknown. We present here a rational argument for the use of computationa...

    Authors: Adam Stevens, Karen E Cosgrove, Raja Padidela, Mars S Skae, Peter E Clayton, Indraneel Banerjee and Mark J Dunne
    Citation: Orphanet Journal of Rare Diseases 2013 8:21
  34. CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP)...

    Authors: Marta Corton, Sorina D Tatu, Almudena Avila-Fernandez, Elena Vallespín, Ignacio Tapias, Diego Cantalapiedra, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Sara Bernal, Blanca García-Sandoval, Montserrat Baiget and Carmen Ayuso
    Citation: Orphanet Journal of Rare Diseases 2013 8:20
  35. To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations.

    Authors: Filippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini and Alessandro Simonati
    Citation: Orphanet Journal of Rare Diseases 2013 8:19
  36. Neuro-Behçet’s disease (NBD) involves the central nervous system; peripheral nervous system involvement is not often reported. NBD is quite common in adult patients and occurs rarely during childhood and adole...

    Authors: Paolo Mora, Chiara Menozzi, Jelka G Orsoni, Pierangela Rubino, Livia Ruffini and Arturo Carta
    Citation: Orphanet Journal of Rare Diseases 2013 8:18
  37. Bullous pemphigoid is a subepidermal blistering disorder associated with tissue-bound and circulating autoantibodies directed mainly to the hemidesmosomal component collagen XVII. While recapitulating the main...

    Authors: Mircea Teodor Chiriac, Emilia Licarete, Alexandra Gabriela Sas, Andreea Maria Rados, Iulia Lupan, Anca Mirela Chiriac, Hilda Speth, Vlad Pop-Vancia, Iacob Domsa, Alina Sesarman, Octavian Popescu and Cassian Sitaru
    Citation: Orphanet Journal of Rare Diseases 2013 8:17
  38. Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. T...

    Authors: Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, Anna Maria Barbarulo, Vincenzo Nigro, Mariarosa AB Melone, Francesca Simonelli and Sandro Banfi
    Citation: Orphanet Journal of Rare Diseases 2013 8:16
  39. Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce.

    Authors: Huiwen Zhang, Yu Wang, Zhuwen Gong, Xiaoyan Li, Wenjuan Qiu, Lianshu Han, Jun Ye and Xuefan Gu
    Citation: Orphanet Journal of Rare Diseases 2013 8:15
  40. Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal sig...

    Authors: Shinsuke Fujioka, Christina Sundal and Zbigniew K Wszolek
    Citation: Orphanet Journal of Rare Diseases 2013 8:14
  41. Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynt...

    Authors: Michela Barbaro, Maire Kotajärvi, Pauline Harper and Ylva Floderus
    Citation: Orphanet Journal of Rare Diseases 2013 8:13
  42. Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. We report data recorded at enrolment in an ongoing international NP-C regi...

    Authors: Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara Schwierin, Harir Drevon, Marie T Vanier and Mercé Pineda
    Citation: Orphanet Journal of Rare Diseases 2013 8:12

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:73

  43. Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome...

    Authors: Heidi M Sampson, Hung Lam, Pei-Chun Chen, Donglei Zhang, Cristina Mottillo, Myriam Mirza, Karim Qasim, Alvin Shrier, Show-Ling Shyng, John W Hanrahan and David Y Thomas
    Citation: Orphanet Journal of Rare Diseases 2013 8:11
  44. Malignant atrophic papulosis (MAP), described independently by Köhlmeier and Degos et al., is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-whi...

    Authors: Athanasios Theodoridis, Evgenia Makrantonaki and Christos C Zouboulis
    Citation: Orphanet Journal of Rare Diseases 2013 8:10
  45. Cockayne Syndrome CS (Type A – CSA; or CS Type I OMIM #216400) (Type B – CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by pro...

    Authors: Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus and Vincent Laugel
    Citation: Orphanet Journal of Rare Diseases 2013 8:9
  46. The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In ...

    Authors: Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell and Ute Spiekerkötter
    Citation: Orphanet Journal of Rare Diseases 2013 8:8
  47. Deregulation of microRNA (miRNA) transcript levels has been observed in many types of tumors including osteosarcoma. Molecular pathways regulated by differentially expressed miRNAs may contribute to the hetero...

    Authors: Aaron L Sarver, Venugopal Thayanithy, Milcah C Scott, Anne-Marie Cleton-Jansen, Pancras CW Hogendoorn, Jaime F Modiano and Subbaya Subramanian
    Citation: Orphanet Journal of Rare Diseases 2013 8:7