Skip to main content

Articles

Page 73 of 78

  1. The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corr...

    Authors: Dan Lipsker
    Citation: Orphanet Journal of Rare Diseases 2010 5:38
    Content type: Review Published on:

  2. Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of canc...

    Authors: Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt and Isabelle Meyts
    Citation: Orphanet Journal of Rare Diseases 2010 5:37
    Content type: Case Report Published on:

  3. The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficul...

    Authors: Giuseppina Andreotti, Mario R Guarracino, Marco Cammisa, Antonella Correra and Maria Vittoria Cubellis
    Citation: Orphanet Journal of Rare Diseases 2010 5:36
    Content type: Methodology Published on:

  4. Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical C...

    Authors: Johann Böhm, Uluç Yiş, Ragıp Ortaç, Handan Çakmakçı, Semra Hız Kurul, Eray Dirik and Jocelyn Laporte
    Citation: Orphanet Journal of Rare Diseases 2010 5:35
    Content type: Case Report Published on:

  5. Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity. We have undertaken a study using microarray ge...

    Authors: Monica Arenas Hernandez, Reiner Schulz, Tracy Chaplin, Bryan D Young, David Perrett, Michael P Champion, Jan-Willem Taanman, Anthony Fensom and Anthony M Marinaki
    Citation: Orphanet Journal of Rare Diseases 2010 5:34
    Content type: Research Published on:

  6. Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplet...

    Authors: Chiara Redaelli, Rosalind A Coleman, Laura Moro, Catherine Dacou-Voutetakis, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo and Daniela Tavian
    Citation: Orphanet Journal of Rare Diseases 2010 5:33
    Content type: Research Published on:

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2011 6:6

  7. In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y+L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Al...

    Authors: Amelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C Gazzola, Zamir Kadija, Giuseppe Rodi, Francesca Mariani, Maria Lorena Ruzza, Maurizio Luisetti and Valeria Dall'Asta
    Citation: Orphanet Journal of Rare Diseases 2010 5:32
    Content type: Research Published on:

  8. A severe encephalitis that associates with auto-antibodies to the NR1 subunit of the NMDA receptor (NMDA-R) was recently reported. Patients' antibodies cause a decrease of the density of NMDA-R and synaptic me...

    Authors: Mario Manto, Josep Dalmau, Adrien Didelot, Véronique Rogemond and Jérôme Honnorat
    Citation: Orphanet Journal of Rare Diseases 2010 5:31
    Content type: Research Published on:

  9. Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence...

    Authors: Dominique P Germain
    Citation: Orphanet Journal of Rare Diseases 2010 5:30
    Content type: Review Published on:

  10. Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation....

    Authors: Cécile Julier and Marc Nicolino
    Citation: Orphanet Journal of Rare Diseases 2010 5:29
    Content type: Review Published on:

  19. Authors: Yolanta Wierzba, Joanna Jaglowska and Emilia G Suszka
    Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P23
    Content type: Poster presentation Published on:

    This article is part of a Supplement: Volume 5 Supplement 1

  24. Authors: Pam Griffiths, Kate Strong, Sara Gardner, Ruth Day, Caroline Harrison, Kerr Bronwyn, Kay Metcalfe, Han Brunner, Dian Donnai, Bruno Dallapiccola, Koenraad Devriendt, Malgorzata Krajewska-Walasek, Nicole Philip and Jill Clayton-Smith
    Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P20
    Content type: Poster presentation Published on:

    This article is part of a Supplement: Volume 5 Supplement 1

Submit manuscript

Follow

  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172