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  1. Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic multisystem disorder and the commonest adult-onset form of muscular dystrophy. DM1 results from the expansion of an unstable trinucleotide cytos...

    Authors: Stéphane Jean, Louis Richer, Luc Laberge and Jean Mathieu
    Citation: Orphanet Journal of Rare Diseases 2014 9:186
    Content type: Research Published on:

  2. Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, wh...

    Authors: Shuke Nie, Guiqin Chen, Xuebing Cao and Yunjian Zhang
    Citation: Orphanet Journal of Rare Diseases 2014 9:179
    Content type: Review Published on:

  3. Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types. WBC cystine det...

    Authors: Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, Hanan Abdelaziz, Safaa M Abdelrahman, Xavier Bossuyt, Mirian C Janssen, Elisabeth AM Cornelissen, Dirk J Lefeber, Leo AB Joosten, Marwa M Nabhan, Fanny O Arcolino, Fayza A Hassan, Héloïse P Gaide Chevronnay, Neveen A Soliman and Elena Levtchenko
    Citation: Orphanet Journal of Rare Diseases 2014 9:155
    Content type: Research Published on:

  4. Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifes...

    Authors: Regina M Leadley, Shona Lang, Kate Misso, Trudy Bekkering, Janine Ross, Takeyuki Akiyama, Michael Fietz, Roberto Giugliani, Chris J Hendriksz, Ngu Lock Hock, Jim McGill, Andrew Olaye, Mohit Jain and Jos Kleijnen
    Citation: Orphanet Journal of Rare Diseases 2014 9:173
    Content type: Research Published on:

  5. Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To ...

    Authors: María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo and José M Millán
    Citation: Orphanet Journal of Rare Diseases 2014 9:168
    Content type: Research Published on:

  6. Developing orphan drugs is challenging because of their severity and the requisite for effective drugs. The small number of patients does not allow conducting adequately powered randomized controlled trials (R...

    Authors: Patrice Nony, Polina Kurbatova, Agathe Bajard, Salma Malik, Charlotte Castellan, Sylvie Chabaud, Vitaly Volpert, Nathalie Eymard, Behrouz Kassai and Catherine Cornu
    Citation: Orphanet Journal of Rare Diseases 2014 9:164
    Content type: Review Published on:

  7. The cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated homocysteine and low methionine in plasma accompanied by methylmalonic aciduria. Due to the hete...

    Authors: Martina Huemer, Sabine Scholl-Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R Baumgartner and Daniela Karall
    Citation: Orphanet Journal of Rare Diseases 2014 9:161
    Content type: Research Published on:

  8. Subcutaneous panniculitis-like T cell lymphomas represent a rare and difficult to diagnose entity of cutaneous T cell lymphomas. SPTL affects predominantly young adults and presents with multifocal subcutaneou...

    Authors: Pilvi Maliniemi, Sonja Hahtola, Kristian Ovaska, Leila Jeskanen, Liisa Väkevä, Kirsi Jäntti, Rudolf Stadler, David Michonneau, Sylvie Fraitag, Sampsa Hautaniemi and Annamari Ranki
    Citation: Orphanet Journal of Rare Diseases 2014 9:160
    Content type: Research Published on:

  39. Authors: Jill Wood, Stuart Siedman, Jennifer Siedman, Paul Levy, Kyle Brown, Kim McBride, Kevin Flanigan, Raquel Marques, Arleta Feldman, Robert PleHcha and Sean Ekins
    Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P7
    Content type: Poster presentation Published on:

    This article is part of a Supplement: Volume 9 Supplement 1

  42. Authors: Verónica Alonso, Ignacio Abaitua, Óscar Zurriaga, Jenaro Astray, Manuel Errezola, Josefa M Aldana-Espinal, Mario J Margolles, Josep Jiménez, Joaquín A Palomar, Milagrosa Santana, Enrique Ramalle-Gomarra, Julián M Ramos, Federico E Arribas, Rufino Álamo, Gonzalo Gutiérrez-Ávila, Antònia Galmés…
    Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P5
    Content type: Poster presentation Published on:

    This article is part of a Supplement: Volume 9 Supplement 1

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172