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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
  2. Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysio...

    Authors: John C Kingswood, Paolo Bruzzi, Paolo Curatolo, Petrus J de Vries, Carla Fladrowski, Christoph Hertzberg, Anna C Jansen, Sergiusz Jozwiak, Rima Nabbout, Matthias Sauter, Renaud Touraine, Finbar O’Callaghan, Bernard Zonnenberg, Stefania Crippa, Silvia Comis, Guillaume Beaure d’Augères…
    Citation: Orphanet Journal of Rare Diseases 2014 9:182
  3. Testicular germ cell tumors (TGCTs) account for 1-2% of all tumors in young and middle aged men. A 75-fold increase in TCGT development has been reported for monozygotic (MZ) twins. Therefore, the occurrence o...

    Authors: Sara Martoreli Silveira, Isabela Werneck da Cunha, Fabio Albuquerque Marchi, Ariane Fidelis Busso, Ademar Lopes and Silvia Regina Rogatto
    Citation: Orphanet Journal of Rare Diseases 2014 9:181
  4. 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
  5. Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15...

    Authors: Michael Schelleckes, Malte Lenders, Katrin Guske, Boris Schmitz, Christian Tanislav, Sonja Ständer, Dieter Metze, Istvan Katona, Joachim Weis, Stefan-Martin Brand, Thomas Duning and Eva Brand
    Citation: Orphanet Journal of Rare Diseases 2014 9:178
  6. Alpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding AAT is the highly polymorphic SERPINA1 gene, found ...

    Authors: Ilaria Ferrarotti, Tomás P Carroll, Stefania Ottaviani, Anna M Fra, Geraldine O’Brien, Kevin Molloy, Luciano Corda, Daniela Medicina, David R Curran, Noel G McElvaney and Maurizio Luisetti
    Citation: Orphanet Journal of Rare Diseases 2014 9:172
  7. Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide.

    Authors: Jenna Hildebrandt, Ebru Yalcin, Hans-Georg Bresser, Guzin Cinel, Monika Gappa, Alireza Haghighi, Nural Kiper, Soheila Khalilzadeh, Karl Reiter, John Sayer, Nicolaus Schwerk, Anke Sibbersen, Sabine Van Daele, Georg Nübling, Peter Lohse and Matthias Griese
    Citation: Orphanet Journal of Rare Diseases 2014 9:171
  8. Signs and symptoms of the X-linked disorder, Fabry disease (FD), can occur early during childhood with heterogeneous clinical manifestations including potential cardiac and renal dysfunction. Several studies s...

    Authors: Raphael Schiffmann, Gregory M Pastores, Yeong-Hau H Lien, Victoria Castaneda, Peter Chang, Rick Martin and Anna Wijatyk
    Citation: Orphanet Journal of Rare Diseases 2014 9:169
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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