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  1. 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
  2. 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
  3. 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

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

  4. 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
  5. 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
  6. 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
  7. 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
  8. Authors: Yolanta Wierzba, Joanna Jaglowska and Emilia G Suszka
    Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P23

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

  9. 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

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