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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:

  14. 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

  19. 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

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  38. 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:

  39. 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:

  40. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:

  50. 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:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172