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  1. Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However, PAH is a highly polymorphic gen...

    Authors: Elise Jeannesson-Thivisol, François Feillet, Céline Chéry, Pascal Perrin, Shyue-Fang Battaglia-Hsu, Bernard Herbeth, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner…
    Citation: Orphanet Journal of Rare Diseases 2015 10:158
    Content type: Research Published on:

  2. To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and US...

    Authors: Ieva Sliesoraityte, Tunde Peto, Saddek Mohand-Said and Jose Alain Sahel
    Citation: Orphanet Journal of Rare Diseases 2015 10:157
    Content type: Research Published on:

  3. Earlier studies have shown that the absolute number of neutrophil granulocytes (NGs) may increase during attack of hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE). Whether NGs undergo activat...

    Authors: Nóra Veszeli, Dorottya Csuka, Zsuzsanna Zotter, Éva Imreh, Mihály Józsi, Szabolcs Benedek, Lilian Varga and Henriette Farkas
    Citation: Orphanet Journal of Rare Diseases 2015 10:156
    Content type: Research Published on:

  4. Ataxia-telangiectasia (A-T) is a devastating human autosomal recessive disorder that causes progressive cerebellar ataxia, immunodeficiency, premature aging, chromosomal instability and increased cancer risk. ...

    Authors: H. Pommerening, S. van Dullemen, M. Kieslich, R. Schubert, S. Zielen and S. Voss
    Citation: Orphanet Journal of Rare Diseases 2015 10:155
    Content type: Research Published on:

  5. Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobeh...

    Authors: Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Chiara Vannicola, Monica Saccani, Elisabetta Magnaghi, Giulia Federica Scornavacca and Maria Paola Canevini
    Citation: Orphanet Journal of Rare Diseases 2015 10:154
    Content type: Research Published on:

  6. Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose...

    Authors: Kristian A. Groth, Hanne Hove, Kasper Kyhl, Lars Folkestad, Mette Gaustadnes, Niels Vejlstrup, Kirstine Stochholm, John R. Østergaard, Niels H. Andersen and Claus H. Gravholt
    Citation: Orphanet Journal of Rare Diseases 2015 10:153
    Content type: Research Published on:

  8. Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which ca...

    Authors: Femke C. C. Klouwer, Kevin Berendse, Sacha Ferdinandusse, Ronald J. A. Wanders, Marc Engelen and Bwee Tien Poll-The
    Citation: Orphanet Journal of Rare Diseases 2015 10:151
    Content type: Review Published on:

  9. Up to now, only limited data on long-term medical treatment in congenital hyperinsulinism (CHI) is available. Moreover, most of the drugs used in CHI are therefore not approved. We aimed to assemble more objec...

    Authors: Alena Welters, Christian Lerch, Sebastian Kummer, Jan Marquard, Burak Salgin, Ertan Mayatepek and Thomas Meissner
    Citation: Orphanet Journal of Rare Diseases 2015 10:150
    Content type: Research Published on:

  10. Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragment...

    Authors: Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett and Tarekegn Geberhiwot
    Citation: Orphanet Journal of Rare Diseases 2015 10:149
    Content type: Research Published on:

  11. Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each o...

    Authors: Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher P. Barnett, Goknur Haliloglu, Beril Talim, Zuhal Akcoren, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary-Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A Sewry…
    Citation: Orphanet Journal of Rare Diseases 2015 10:148
    Content type: Research Published on:

  12. The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires a...

    Authors: Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A. Hübner and Christian Beetz
    Citation: Orphanet Journal of Rare Diseases 2015 10:147
    Content type: Research Published on:

  13. A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.

    Authors: Laura L. Tosi, Matthew E. Oetgen, Marianne K. Floor, Mary Beth Huber, Ann M. Kennelly, Robert J. McCarter, Melanie F. Rak, Barbara J. Simmonds, Melissa D. Simpson, Carole A. Tucker and Fergus E. McKiernan
    Citation: Orphanet Journal of Rare Diseases 2015 10:146
    Content type: Research Published on:

  14. Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and...

    Authors: Louise F. Porter, Roberto Gallego-Pinazo, Catherine L. Keeling, Martyna Kamieniorz, Nicoletta Zoppi, Marina Colombi, Cecilia Giunta, Richard Bonshek, Forbes D. Manson and Graeme C. Black
    Citation: Orphanet Journal of Rare Diseases 2015 10:145
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172