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  1. D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of ...

    Authors: Hugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe C Gottlieb, Sarah E Lawrence, Alex MacKenzie, Chandree L Beaulieu, Petra A W Mooyer, Ronald J A Wanders, Jacek Majewski, Dennis E Bulman, Michael T Geraghty, Sacha Ferdinandusse and Kym M Boycott
    Citation: Orphanet Journal of Rare Diseases 2012 7:90
    Content type: Research Published on:

  7. Authors: Stephanie S Weinreich, Charlotte Vrinten, Jan JGM Verschuuren, Carin A Uyl-de Groot, Marja R Kuijpers, Ellen Sterrenburg, Rob JPM Scholten, Cees FRM van Bezooijen, Marcel FTH Timmen, Sonja van Weely and Martina C Cornel
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A29
    Content type: Meeting abstract Published on:

    This article is part of a Supplement: Volume 7 Supplement 2

  9. Authors: Annemieke Aartsma-Rus, Jan JGM Verschuuren, Giles V Campion, Gert-jan B van Ommen and Judith CT van Deutekom
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A20
    Content type: Meeting abstract Published on:

    This article is part of a Supplement: Volume 7 Supplement 2

  13. Wolfram syndrome (WFS) is a rare, neurodegenerative disease that typically presents with childhood onset insulin dependent diabetes mellitus, followed by optic atrophy, diabetes insipidus, deafness, and neurol...

    Authors: Chau Nguyen, Erin R Foster, Alexander R Paciorkowski, Amy Viehoever, Colleen Considine, Aidena Bondurant, Bess A Marshall and Tamara Hershey
    Citation: Orphanet Journal of Rare Diseases 2012 7:89
    Content type: Research Published on:

  14. Due partly to physicians’ unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease out...

    Authors: Nadine AME van der Beek, Juna M de Vries, Marloes LC Hagemans, Wim CJ Hop, Marian A Kroos, John HJ Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Notermans, Karin G Faber, Jan JGM Verschuuren, Arnold JJ Reuser, Ans T van der Ploeg and Pieter A van Doorn
    Citation: Orphanet Journal of Rare Diseases 2012 7:88
    Content type: Research Published on:

  15. Tuberous sclerosis (TS) is a rare autosomal dominant systemic disease with an estimated prevalence of 1/6000. Renal angiomyolipoma (AML) is a benign tumour with high morbidity frequently present in TS. The aim...

    Authors: Cristina Cabrera-López, Teresa Martí, Violeta Catalá, Ferran Torres, Silvia Mateu, Jose Ballarín and Roser Torra
    Citation: Orphanet Journal of Rare Diseases 2012 7:87
    Content type: Research Published on:

  16. Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be ab...

    Authors: Catharina Whybra, Eugen Mengel, Alexandra Russo, Franz Bahlmann, Christoph Kampmann, Michael Beck, Elke Eich and Eva Mildenberger
    Citation: Orphanet Journal of Rare Diseases 2012 7:86
    Content type: Research Published on:

  17. For over 20 years, the National Health Service in England has run a system of national planning for highly specialised healthcare services. The aim is to ensure that very rare diseases are treated, and very co...

    Authors: Suzanne Coles, Kate Haire, Tom Kenny and Edmund G Jessop
    Citation: Orphanet Journal of Rare Diseases 2012 7:85
    Content type: Research Published on:

  18. Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (auto...

    Authors: Frederic R E Acke, Ingeborg J M Dhooge, Fransiska Malfait and Els M R De Leenheer
    Citation: Orphanet Journal of Rare Diseases 2012 7:84
    Content type: Review Published on:

  19. The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to b...

    Authors: Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk IJlst and Ronald JA Wanders
    Citation: Orphanet Journal of Rare Diseases 2012 7:83
    Content type: Review Published on:

  20. Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to sk...

    Authors: Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura González-Mera, Francina Munell, Manuel Roig-Quilis, Maria Rabasa, Aurelio Hernández-Lain, Jorge Díaz-Manera…
    Citation: Orphanet Journal of Rare Diseases 2012 7:82
    Content type: Research Published on:

  21. The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is th...

    Authors: Anna Cereda and John C Carey
    Citation: Orphanet Journal of Rare Diseases 2012 7:81
    Content type: Review Published on:

  22. Craniomaxillofacial fibrous dysplasia (FD) is a benign bone lesion characterized by facial disfigurement and functional impairment. The aim of this study was to characterize the epidemiological and clinical fe...

    Authors: Jie Cheng, Yanling Wang, Hongbo Yu, Dongmiao Wang, Jinhai Ye, Hongbin Jiang, Yunong Wu and Guofang Shen
    Citation: Orphanet Journal of Rare Diseases 2012 7:80
    Content type: Research Published on:

  23. Diffuse parenchymal lung diseases (DPLD) represent a diverse group of disorders affecting the distal lung parenchyma, specifically the tissue and spaces surrounding the alveoli, which may be filled with inflam...

    Authors: Paolo Spagnolo, Fabrizio Luppi, Stefania Cerri and Luca Richeldi
    Citation: Orphanet Journal of Rare Diseases 2012 7:79
    Content type: Review Published on:

  24. Primary ciliary dyskinesia (PCD) is a rare congenital respiratory disorder characterized by abnormal ciliary motility leading to chronic airway infections. Qualitative evaluation of ciliary beat pattern based ...

    Authors: Jean-François Papon, Laurence Bassinet, Gwenaëlle Cariou-Patron, Francoise Zerah-Lancner, Anne-Marie Vojtek, Sylvain Blanchon, Bruno Crestani, Serge Amselem, Andre Coste, Bruno Housset, Estelle Escudier and Bruno Louis
    Citation: Orphanet Journal of Rare Diseases 2012 7:78
    Content type: Research Published on:

  25. Clinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.

    Authors: Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, Djazia Heraoui, Linda Rossi-Semerano, Marc G Berger, Christian Rose, Fabrice Camou, Christine de Roux-Serratrice, Bernard Grosbois, Pierre Kaminsky, Alain Robert, Catherine Caillaud, Roselyne Froissart, Thierry Levade, Agathe Masseau…
    Citation: Orphanet Journal of Rare Diseases 2012 7:77
    Content type: Research Published on:

  26. Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the

    Authors: Mark Walterfang, Yin-Hsiu Chien, Jackie Imrie, Derren Rushton, Danielle Schubiger and Marc C Patterson
    Citation: Orphanet Journal of Rare Diseases 2012 7:76
    Content type: Research Published on:

  27. To examine the natural growth dynamics of internal plexiform neurofibromas (PNs) in patients with neurofibromatosis 1 (NF1).

    Authors: Rosa Nguyen, Eva Dombi, Brigitte C Widemann, Jeffrey Solomon, Carsten Fuensterer, Lan Kluwe, Jan M Friedman and Victor-Felix Mautner
    Citation: Orphanet Journal of Rare Diseases 2012 7:75
    Content type: Research Published on:

  28. Since its enactment in 2000, the European Orphan Medicinal Products Regulation has allowed the review and approval of approaching 70 treatments for some 55 different conditions in Europe. Success does not come...

    Authors: Wills Hughes-Wilson, Ana Palma, Ad Schuurman and Steven Simoens
    Citation: Orphanet Journal of Rare Diseases 2012 7:74
    Content type: Research Published on:

  29. Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscular disorder, is of promising but variable efficacy. We investigated whether it alters the course of disease, and also ide...

    Authors: Juna M de Vries, Nadine AME van der Beek, Wim CJ Hop, Francois PJ Karstens, John H Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Notermans, Catharina G Faber, Jan JGM Verschuuren, Michelle E Kruijshaar, Arnold JJ Reuser, Pieter A van Doorn and Ans T van der Ploeg
    Citation: Orphanet Journal of Rare Diseases 2012 7:73
    Content type: Research Published on:

  30. Severe cutaneous adverse reactions to drugs (SCARs) include acute generalized exanthematous pustulosis (AGEP), drug reaction with eosinophilia and systemic symptoms (DRESS) and epidermal necrolysis (Stevens-Jo...

    Authors: Sophie Bouvresse, Laurence Valeyrie-Allanore, Nicolas Ortonne, Marie Pauline Konstantinou, Sylvia H Kardaun, Martine Bagot, Pierre Wolkenstein and Jean-Claude Roujeau
    Citation: Orphanet Journal of Rare Diseases 2012 7:72
    Content type: Research Published on:

  31. WHIM syndrome (WS), a rare congenital neutropenia due to mutations of the CXCR4 chemokine receptor, is associated with Human Papillomavirus (HPV)-induced Warts, Hypogammaglobulinemia, bacterial Infections and ...

    Authors: Sarah Beaussant Cohen, Odile Fenneteau, Emmanuel Plouvier, Pierre-Simon Rohrlich, Gerard Daltroff, Isabelle Plantier, Alain Dupuy, Delphine Kerob, Blandine Beaupain, Pierre Bordigoni, Fanny Fouyssac, Anne-Lise Delezoide, Gilles Devouassoux, Jean François Nicolas, Philippe Bensaid, Yves Bertrand…
    Citation: Orphanet Journal of Rare Diseases 2012 7:71
    Content type: Research Published on:

  32. Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-depe...

    Authors: Marie Morimoto, Zhongxin Yu, Peter Stenzel, J Marietta Clewing, Behzad Najafian, Christy Mayfield, Glenda Hendson, Justin G Weinkauf, Andrew K Gormley, David M Parham, Umakumaran Ponniah, Jean-Luc André, Yumi Asakura, Mitra Basiratnia, Radovan Bogdanović, Arend Bokenkamp…
    Citation: Orphanet Journal of Rare Diseases 2012 7:70
    Content type: Research Published on:

  33. Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding ...

    Authors: Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada, Orly Elpeleg, Jutta Gärtner and Knut Brockmann
    Citation: Orphanet Journal of Rare Diseases 2012 7:69
    Content type: Research Published on:

  35. Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be a...

    Authors: Lijia Huang, Jodi Warman-Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman and Kym M Boycott
    Citation: Orphanet Journal of Rare Diseases 2012 7:67
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:143

  36. We report the development of an international registry for Neurodegeneration with Brain Iron Accumulation (NBIA), in the context of TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an EU-FP7 – fu...

    Authors: Bernadette Kalman, Ronald Lautenschlaeger, Florian Kohlmayer, Boriana Büchner, Thomas Kmiec, Thomas Klopstock and Klaus A Kuhn
    Citation: Orphanet Journal of Rare Diseases 2012 7:66
    Content type: Letter to the Editor Published on:

  37. The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malforma...

    Authors: Nadine Zwink, Ekkehart Jenetzky, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Sandra Weih, Stuart Hosie, Peter Reifferscheid, Helen Ameis, Christina Kujath, Anke Rißmann, Florian Obermayr, Nicole Schwarzer, Enrika Bartels…
    Citation: Orphanet Journal of Rare Diseases 2012 7:65
    Content type: Research Published on:

  38. The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV1 and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care....

    Authors: Pierre-Yves Boëlle, Laura Viviani, Pierre-Francois Busson, Hanne V Olesen, Sophie Ravilly, Martin Stern, Baroukh M Assael, Celeste Barreto, Pavel Drevinek, Muriel Thomas, Uros Krivec, Meir Mei-Zahav, Jean-François Vibert, Annick Clement, Anil Mehta and Harriet Corvol
    Citation: Orphanet Journal of Rare Diseases 2012 7:64
    Content type: Research Published on:

  39. Resources for rare diseases are lacking. Patients do not have the information and support that they need, and researchers struggle to make progress due to a shortage of skills and collaborations within the fie...

    Authors: Vicki L Colledge and John Solly
    Citation: Orphanet Journal of Rare Diseases 2012 7:63
    Content type: Letter to the Editor Published on:

  40. To identify clinical characteristics associated with internal neurofibromas in children with NF1, as a means of ensuring the early identification of patients at high risk for malignant peripheral nerve-sheath ...

    Authors: Emilie Sbidian, Smaïl Hadj-Rabia, Vincent M Riccardi, Laurence L Valeyrie-Allanore, Sébastien Barbarot, Olivier Chosidow, Salah Ferkal, Diana Rodriguez, Pierre Wolkenstein and Sylvie Bastuji-Garin
    Citation: Orphanet Journal of Rare Diseases 2012 7:62
    Content type: Research Published on:

  41. Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a no...

    Authors: Mahesh Kappanayil, Sheela Nampoothiri, Rajesh Kannan, Marjolijn Renard, Paul Coucke, Fransiska Malfait, Swapna Menon, Hiran K Ravindran, Renu Kurup, Muhammad Faiyaz-Ul-Haque, Krishna Kumar and Anne De Paepe
    Citation: Orphanet Journal of Rare Diseases 2012 7:61
    Content type: Research Published on:

  42. Hereditary hearing loss is one of the most common heterogeneous disorders, and genetic variants that can cause hearing loss have been identified in over sixty genes. Most of these hearing loss genes have been ...

    Authors: Jeong-In Baek, Se-Kyung Oh, Dong-Bin Kim, Soo-Young Choi, Un-Kyung Kim, Kyu-Yup Lee and Sang-Heun Lee
    Citation: Orphanet Journal of Rare Diseases 2012 7:60
    Content type: Research Published on:

  43. Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese fa...

    Authors: Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann and Hanno Jörn Bolz
    Citation: Orphanet Journal of Rare Diseases 2012 7:59
    Content type: Research Published on:

  44. Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA survei...

    Authors: Sara Gonzalez-Hilarion, Terence Beghyn, Jieshuang Jia, Nadège Debreuck, Gonzague Berte, Kamel Mamchaoui, Vincent Mouly, Dieter C Gruenert, Benoit Déprez and Fabrice Lejeune
    Citation: Orphanet Journal of Rare Diseases 2012 7:58
    Content type: Research Published on:

  45. Uveitis is an autoimmune disease of the eye that refers to any of a number of intraocular inflammatory conditions. Because it is a rare disease, uveitis is often overlooked, and the possible associations betwe...

    Authors: Talin Barisani-Asenbauer, Saskia M Maca, Lamiss Mejdoubi, Wolfgang Emminger, Klaus Machold and Herbert Auer
    Citation: Orphanet Journal of Rare Diseases 2012 7:57
    Content type: Research Published on:

  46. Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported...

    Authors: Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi and Albert de la Chapelle
    Citation: Orphanet Journal of Rare Diseases 2012 7:56
    Content type: Research Published on:

  47. Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in “Nosology a...

    Authors: Yazhou Cui, Heng Zhao, Zhenxing Liu, Chao Liu, Jing Luan, Xiaoyan Zhou and Jinxiang Han
    Citation: Orphanet Journal of Rare Diseases 2012 7:55
    Content type: Review Published on:

  48. AL amyloidosis results from extra-cellular deposition of fibril-forming monoclonal immunoglobulin (Ig) light chains (LC) (most commonly of lambda isotype) usually secreted by a small plasma cell clone. Most pa...

    Authors: Estelle Desport, Frank Bridoux, Christophe Sirac, Sébastien Delbes, Sébastien Bender, Béatrice Fernandez, Nathalie Quellard, Corinne Lacombe, Jean-Michel Goujon, David Lavergne, Julie Abraham, Guy Touchard, Jean-Paul Fermand and Arnaud Jaccard
    Citation: Orphanet Journal of Rare Diseases 2012 7:54
    Content type: Review Published on:

  49. Web-based interventions are effective on the patient empowerment. Guiametabolica.org constitutes an interface for people involved in inherited metabolic diseases, trying to facilitate access to information and co...

    Authors: Manuel Armayones, M Antònia Vilaseca, Júlia Cutillas, Jordi Fàbrega, Jorge Juan Fernández, Mei García, Natàlia Egea, Modesta Pousada, Beni Gómez-Zuñiga, Jaume Pérez-Payarols, Rafael Artuch, Francesc Palau and Mercedes Serrano
    Citation: Orphanet Journal of Rare Diseases 2012 7:53
    Content type: Letter to the Editor Published on:

  50. Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogeni...

    Authors: Lilia Romdhane, Rym Kefi, Hela Azaiez, Nizar Ben Halim, Koussay Dellagi and Sonia Abdelhak
    Citation: Orphanet Journal of Rare Diseases 2012 7:52
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172