Orphanet Journal of Rare Diseases | All articles

Orphanet Journal of Rare Diseases | All articles

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	Research    Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, Hanan Abdelaziz, Safaa M Abdelrahman, Xavier Bossuyt, Mirian C Janssen, Elisabeth Cornelissen, Dirk J Lefeber, Leo Joosten, Marwa M Nabhan, Fanny O Arcolino, Fayza A Hassan, Héloïse P Gaide Chevronnay, Neveen A Soliman, Elena LevtchenkoOrphanet Journal of Rare Diseases 2014, 9:155 (19 November 2014) Abstract | Provisional PDF
	Research    A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases Regina M Leadley, Shona Lang, Kate Misso, Trudy Bekkering, Janine Ross, Takeyuki Akiyama, Michael Fietz, Roberto Giugliani, Chris J Hendriksz, Ngu Hock, Jim McGill, Andrew Olaye, Mohit Jain, Jos KleijnenOrphanet Journal of Rare Diseases 2014, 9:173 (18 November 2014) Abstract | Provisional PDF | PubMed
	Research    Targeted next generation sequencing for molecular diagnosis of Usher syndrome 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, José M MillánOrphanet Journal of Rare Diseases 2014, 9:168 (18 November 2014) Abstract | Provisional PDF | PubMed
	Review    A methodological framework for drug development in rare diseases Patrice Nony, Polina Kurbatova, Agathe Bajard, Salma Malik, Charlotte Castellan, Sylvie Chabaud, Vitaly Volpert, Nathalie Eymard, Behrouz Kassai, Catherine Cornu, The CRESim and Epi-CRESim study groupsOrphanet Journal of Rare Diseases 2014, 9:164 (18 November 2014) Abstract | Provisional PDF
	Research    Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy Martina Huemer, Sabine Scholl-Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R Baumgartner, Daniela KarallOrphanet Journal of Rare Diseases 2014, 9:161 (15 November 2014) Abstract | Provisional PDF | PubMed
	Research    Molecular characterization of subcutaneous panniculitis-like T-cell lymphoma reveals upregulation of immunosuppression- and autoimmunity-associated genes Pilvi Maliniemi, Sonja Hahtola, Kristian Ovaska, Leila Jeskanen, Liisa Väkevä, Kirsi Jäntti, Rudolf Stadler, David Michonneau, Sylvie Fraitag, Sampsa Hautaniemi, Annamari Ranki, for the Groupe d’Etude Français des Lymphomes CutanésOrphanet Journal of Rare Diseases 2014, 9:160 (12 November 2014) Abstract | Provisional PDF
	Research    Differences in immunoreactive trypsin values between type of feeding and ethnicity in neonatal cystic fibrosis screening: a cross-sectional study Ernesto Cortés, Ana Roldán, Antonio Palazón-Bru, María Rizo-Baeza, Herminia Manero, Vicente Gil-GuillénOrphanet Journal of Rare Diseases 2014, 9:166 (7 November 2014) Abstract | Full text | PDF | ePUB
	Research    Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication Joo Park, Nayoung K D Kim, Ah Kim, Jihye Rhee, Seung Oh, Ja-Won Koo, Jae-Yong Nam, Woong-Yang Park, Byung ChoiOrphanet Journal of Rare Diseases 2014, 9:167 (6 November 2014) Abstract | Provisional PDF | PubMed
	Position statement    Pharmaceutical pricing, cost containment and new treatments for rare diseases in children Peter Stella, Gabrielle Gold-von SimsonOrphanet Journal of Rare Diseases 2014, 9:152 (28 October 2014) Abstract | Full text | PDF | ePUB
	Review    Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism – a systematic review Nina A Zeltner, Martina Huemer, Matthias R Baumgartner, Markus A LandoltOrphanet Journal of Rare Diseases 2014, 9:159 (25 October 2014) Abstract | Full text | PDF
	Research    Holt Oram syndrome: a registry-based study in Europe Ingeborg Barisic, Ljubica Boban, Ruth Greenlees, Ester Garne, Diana Wellesley, Elisa Calzolari, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Paula Braz, Judith Budd, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Bob McDonnell, Vera Nelen, Anna Pierini, Annette Queisser-Wahrendorf, Judith Rankin, Anke Rissmann, Catherine Rounding, David Tucker, Christine Verellen-Dumoulin, Helen DolkOrphanet Journal of Rare Diseases 2014, 9:156 (25 October 2014) Abstract | Full text | PDF | ePUB
	Research    Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients Konstantin Dimitriadis, Miriam Leonhardt, Patrick Yu-Wai-Man, Matthew Kirkman, Alex Korsten, Irenaeus F De Coo, Patrick Chinnery, Thomas KlopstockOrphanet Journal of Rare Diseases 2014, 9:158 (23 October 2014) Abstract | Full text | PDF
	Research    Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex Eiko Nagata, Hiroki Kano, Fumiko Kato, Rie Yamaguchi, Shinichi Nakashima, Shinichiro Takayama, Rika Kosaki, Hidefumi Tonoki, Seiji Mizuno, Satoshi Watanabe, Koh-ichiro Yoshiura, Tomoki Kosho, Tomonobu Hasegawa, Mamori Kimizuka, Atsushi Suzuki, Kenji Shimizu, Hirofumi Ohashi, Nobuhiko Haga, Hironao Numabe, Emiko Horii, Toshiro Nagai, Hiroshi Yoshihashi, Gen Nishimura, Tatsushi Toda, Shuji Takada, Shigetoshi Yokoyama, Hiroshi Asahara, Shinichiro Sano, Maki Fukami, Shiro Ikegawa, Tsutomu Ogata et al.Orphanet Journal of Rare Diseases 2014, 9:125 (21 October 2014) Abstract | Full text | PDF | ePUB | PubMed
	Letter to the Editor    Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2) Horst von Bernuth, Ethiraj Ravindran, Hang Du, Sebastian Fröhler, Karoline Strehl, Nadine Krämer, Lina Issa-Jahns, Borko Amulic, Olaf Ninnemann, Mei-Sheng Xiao, Katharina Eirich, Uwe Kölsch, Kathrin Hauptmann, Rainer John, Detlev Schindler, Volker Wahn, Wei Chen, Angela M KaindlOrphanet Journal of Rare Diseases 2014, 9:116 (21 October 2014) Abstract | Full text | PDF | ePUB
	Letter to the Editor    Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1 Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, Birgit Spors, Eva Klopocki, Christoph Hübner, Denise Horn, Angela M KaindlOrphanet Journal of Rare Diseases 2014, 9:113 (21 October 2014) Abstract | Full text | PDF | ePUB
	Review    Ovarian teratoma-associated anti-NMDAR encephalitis: a systematic review of reported cases Pedro Acién, Maribel Acién, Eva Ruiz-Maciá, Carlos Martín-EstefaníaOrphanet Journal of Rare Diseases 2014, 9:157 (14 October 2014) Abstract | Full text | PDF
	Research    Orphan drugs expenditure in the Netherlands in the period 2006–2012 Tim A Kanters, Adri Steenhoek, Leona HakkaartOrphanet Journal of Rare Diseases 2014, 9:154 (11 October 2014) Abstract | Full text | PDF | ePUB
	Research    Nationwide patient registry for GNE myopathy in Japan Madoka Mori-Yoshimura, Yukiko K Hayashi, Naohiro Yonemoto, Harumasa Nakamura, Miho Murata, Shin’ichi Takeda, Ichizo Nishino, En KimuraOrphanet Journal of Rare Diseases 2014, 9:150 (11 October 2014) Abstract | Full text | PDF
	Research    Natural history of angiomyolipoma in lymphangioleiomyomatosis: implications for screening and surveillance Zhao W Yeoh, Vidya Navaratnam, Rupesh Bhatt, Ian McCafferty, Richard B Hubbard, Simon R JohnsonOrphanet Journal of Rare Diseases 2014, 9:151 (3 October 2014) Abstract | Full text | PDF
	Review    Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition Vip Viprakasit, Paul Tyan, Sarayuth Rodmai, Ali T TaherOrphanet Journal of Rare Diseases 2014, 9:131 (30 September 2014) Abstract | Full text | PDF | ePUB
	Research    Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasis Sigrun Eick, Magdalena Puklo, Karina Adamowicz, Tomasz Kantyka, Pieter Hiemstra, Henning Stennicke, Arndt Guentsch, Beate Schacher, Peter Eickholz, Jan PotempaOrphanet Journal of Rare Diseases 2014, 9:148 (27 September 2014) Abstract | Full text | PDF
	Research    STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Ketil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, Jens Bollerslev, Ove Bruland, Greg Jablonski, Anne Erichsen, Einar Gude, Jeanette A Koht, Sigrid Erdal, Torunn Fiskerstrand, Bjørn Haukanes, Helge Boman, Lise Bjørkhaug, Chantal Tallaksen, Per M Knappskog, Stefan JohanssonOrphanet Journal of Rare Diseases 2014, 9:146 (26 September 2014) Abstract | Full text | PDF
	Research     Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI Heike Hoyer-Kuhn, Christian Netzer, Friederike Koerber, Eckhard Schoenau, Oliver SemlerOrphanet Journal of Rare Diseases 2014, 9:145 (26 September 2014) Abstract | Full text | PDF | ePUB
	Research    Atypical multisensory integration in Niemann-Pick type C disease – towards potential biomarkers Gizely N Andrade, Sophie Molholm, John S Butler, Alice B Brandwein, Steven U Walkley, John J FoxeOrphanet Journal of Rare Diseases 2014, 9:149 (20 September 2014) Abstract | Full text | PDF | PubMed
	Research    Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking Sylvia Stockler, Silvia Corvera, David Lambright, Kevin Fogarty, Ekaterina Nosova, Deborah Leonard, Robert Steinfeld, Cameron Ackerley, Casper Shyr, Nicolas Au, Kathrin Selby, Margot van Allen, Hilary Vallance, Ron Wevers, David Watkins, David Rosenblatt, Colin J Ross, Elizabeth Conibear, Wyeth Wasserman, Clara van KarnebeekOrphanet Journal of Rare Diseases 2014, 9:141 (20 September 2014) Abstract | Full text | PDF | ePUB