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  1. Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. T...

    Authors: Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, Anna Maria Barbarulo, Vincenzo Nigro, Mariarosa AB Melone, Francesca Simonelli and Sandro Banfi

    Citation: Orphanet Journal of Rare Diseases 2013 8:16

    Content type: Research

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  2. Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce.

    Authors: Huiwen Zhang, Yu Wang, Zhuwen Gong, Xiaoyan Li, Wenjuan Qiu, Lianshu Han, Jun Ye and Xuefan Gu

    Citation: Orphanet Journal of Rare Diseases 2013 8:15

    Content type: Research

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  3. Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal sig...

    Authors: Shinsuke Fujioka, Christina Sundal and Zbigniew K Wszolek

    Citation: Orphanet Journal of Rare Diseases 2013 8:14

    Content type: Review

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  4. Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynt...

    Authors: Michela Barbaro, Maire Kotajärvi, Pauline Harper and Ylva Floderus

    Citation: Orphanet Journal of Rare Diseases 2013 8:13

    Content type: Research

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  5. Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. We report data recorded at enrolment in an ongoing international NP-C regi...

    Authors: Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara Schwierin, Harir Drevon, Marie T Vanier and Mercé Pineda

    Citation: Orphanet Journal of Rare Diseases 2013 8:12

    Content type: Research

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    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:73

  6. Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome...

    Authors: Heidi M Sampson, Hung Lam, Pei-Chun Chen, Donglei Zhang, Cristina Mottillo, Myriam Mirza, Karim Qasim, Alvin Shrier, Show-Ling Shyng, John W Hanrahan and David Y Thomas

    Citation: Orphanet Journal of Rare Diseases 2013 8:11

    Content type: Research

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  7. Malignant atrophic papulosis (MAP), described independently by Köhlmeier and Degos et al., is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-whi...

    Authors: Athanasios Theodoridis, Evgenia Makrantonaki and Christos C Zouboulis

    Citation: Orphanet Journal of Rare Diseases 2013 8:10

    Content type: Review

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  8. Cockayne Syndrome CS (Type A – CSA; or CS Type I OMIM #216400) (Type B – CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by pro...

    Authors: Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus and Vincent Laugel

    Citation: Orphanet Journal of Rare Diseases 2013 8:9

    Content type: Research

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  9. The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In ...

    Authors: Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell and Ute Spiekerkötter

    Citation: Orphanet Journal of Rare Diseases 2013 8:8

    Content type: Review

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  10. Deregulation of microRNA (miRNA) transcript levels has been observed in many types of tumors including osteosarcoma. Molecular pathways regulated by differentially expressed miRNAs may contribute to the hetero...

    Authors: Aaron L Sarver, Venugopal Thayanithy, Milcah C Scott, Anne-Marie Cleton-Jansen, Pancras CW Hogendoorn, Jaime F Modiano and Subbaya Subramanian

    Citation: Orphanet Journal of Rare Diseases 2013 8:7

    Content type: Research

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  11. Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is s...

    Authors: Sarah C Grünert, Stephanie Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A Bodamer, Matthias R Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr…

    Citation: Orphanet Journal of Rare Diseases 2013 8:6

    Content type: Research

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  12. Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated ...

    Authors: Alexandre Fabre, Christine Martinez-Vinson, Olivier Goulet and Catherine Badens

    Citation: Orphanet Journal of Rare Diseases 2013 8:5

    Content type: Review

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  13. Methylmalonic aciduria is an inborn error of metabolism characterized by accumulation of methylmalonate (MMA), propionate and 2-methylcitrate (2-MCA) in body fluids. Early diagnosis and current treatment strat...

    Authors: Paris Jafari, Olivier Braissant, Petra Zavadakova, Hugues Henry, Luisa Bonafé and Diana Ballhausen

    Citation: Orphanet Journal of Rare Diseases 2013 8:4

    Content type: Research

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  14. Nineteen patients with deletions in chromosome 6p22-p24 have been published so far. The syndromic phenotype is varied, and includes intellectual disability, behavioural abnormalities, dysmorphic features and s...

    Authors: Tuva Barøy, Doriana Misceo, Petter Strømme, Asbjørg Stray-Pedersen, Asbjørn Holmgren, Olaug Kristin Rødningen, Anne Blomhoff, Johan Robert Helle, Alice Stormyr, Bjørn Tvedt, Madeleine Fannemel and Eirik Frengen

    Citation: Orphanet Journal of Rare Diseases 2013 8:3

    Content type: Research

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  15. Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two...

    Authors: Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, Bjørn Ivar Haukanes, Cecilie Bredrup, Gesche Neckelmann, Helge Boman, Per Morten Knappskog and Laurence A Bindoff

    Citation: Orphanet Journal of Rare Diseases 2013 8:1

    Content type: Research

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  16. Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which const...

    Authors: Raquel Ma Fernández, Marta Bleda, Rocío Núñez-Torres, Ignacio Medina, Berta Luzón-Toro, Luz García-Alonso, Ana Torroglosa, Martina Marbà, Ma Valle Enguix-Riego, David Montaner, Guillermo Antiñolo, Joaquín Dopazo and Salud Borrego

    Citation: Orphanet Journal of Rare Diseases 2012 7:103

    Content type: Research

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  17. Previous studies have provided equivocal data on the use of miglustat as maintenance therapy in Gaucher disease type 1. We report findings from a clinical trial evaluating the effects of miglustat treatment in...

    Authors: Timothy M Cox, Dominick Amato, Carla EM Hollak, Cecile Luzy, Mariabeth Silkey, Ruben Giorgino and Robert D Steiner

    Citation: Orphanet Journal of Rare Diseases 2012 7:102

    Content type: Research

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  18. The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each...

    Authors: Amanda G Silva, Maria Isabel Waddington Achatz, Ana CV Krepischi, Peter L Pearson and Carla Rosenberg

    Citation: Orphanet Journal of Rare Diseases 2012 7:101

    Content type: Research

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  19. Pathologic studies play an important role in evaluating patients with Alport syndrome besides genotyping. Difficulties still exist in diagnosing Alport syndrome (AS), and misdiagnosis is a not-so-rare event, e...

    Authors: Xiao-dan Yao, Xin Chen, Gao-yuan Huang, Yan-ting Yu, Shu-tian Xu, Yang-lin Hu, Qing-wen Wang, Hui-ping Chen, Cai-hong Zeng, Da-xi Ji, Wei-xin Hu, Zheng Tang and Zhi-hong Liu

    Citation: Orphanet Journal of Rare Diseases 2012 7:100

    Content type: Research

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  20. Diffuse alveolar hemorrhage syndrome is a life threatening condition with diverse etiologies. Sensitive prognostic markers for diffuse alveolar hemorrhage have not been well investigated. Serum KL-6 is a bioma...

    Authors: Yoshiko Kida, Shinichiro Ohshimo, Kohei Ota, Tomoko Tamura, Tadatsugu Otani, Kazunobu Une, Takuma Sadamori, Yasumasa Iwasaki, Francesco Bonella, Noboru Hattori, Nobuyuki Hirohashi, Josune Guzman, Ulrich Costabel, Nobuoki Kohno and Koichi Tanigawa

    Citation: Orphanet Journal of Rare Diseases 2012 7:99

    Content type: Research

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  21. A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...

    Authors: David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli, Vassili Valayannopoulos, Jean-François Benoist, Jean-Marc Pinard, Gilles Simard, Olivier Douay, Kumaran Deiva…

    Citation: Orphanet Journal of Rare Diseases 2012 7:96

    Content type: Research

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  22. Amyloidosis cutis dyschromica is a rarely documented variant of cutaneous amyloidosis. To date, only 26 cases have been reported.

    Authors: Jianjun Qiao, Hong Fang and Hongtian Yao

    Citation: Orphanet Journal of Rare Diseases 2012 7:95

    Content type: Research

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  23. The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads t...

    Authors: Daisy Rymen, Liesbeth Keldermans, Valérie Race, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-wing Fung, Luisa Sturiale, Claire Rosnoblet, François Foulquier, Gert Matthijs and Jaak Jaeken

    Citation: Orphanet Journal of Rare Diseases 2012 7:94

    Content type: Research

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    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:120

  24. The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres. The European Porphyria Ini...

    Authors: Mette C Tollånes, Aasne K Aarsand, Jørild Haugen Villanger, Egil Støle, Jean-Charles Deybach, Joanne Marsden, Jordi To-Figueras and Sverre Sandberg

    Citation: Orphanet Journal of Rare Diseases 2012 7:93

    Content type: Research

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  25. Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypica...

    Authors: Kristen A Pickett, Ryan P Duncan, James Hoekel, Bess Marshall, Tamara Hershey and Gammon M Earhart

    Citation: Orphanet Journal of Rare Diseases 2012 7:92

    Content type: Research

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  26. Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues. We report o...

    Authors: Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Laura Barisoni, Charles J Jennette, Alexander Bragat, Jeff Castelli, Sheela Sitaraman, David J Lockhart and Pol F Boudes

    Citation: Orphanet Journal of Rare Diseases 2012 7:91

    Content type: Research

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  27. Authors: Stephanie S Weinreich, Charlotte Vrinten, Jan JGM Verschuuren, Carin A Uyl-de Groot, Marja R Kuijpers, Ellen Sterrenburg, Rob JPM Scholten, Cees FRM van Bezooijen, Marcel FTH Timmen, Sonja van Weely and Martina C Cornel

    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A29

    Content type: Meeting abstract

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    This article is part of a Supplement: Volume 7 Supplement 2