Skip to main content

Articles

Page 49 of 69

  1. Factors associated with survival in pemphigus have not yet been thoroughly addressed. Therefore, in the present study, risk factors for overall mortality in a large group of patients with pemphigus vulgaris an...

    Authors: Adrian Baican, Roxana Chiorean, Daniel Corneliu Leucuta, Corina Baican, Sorina Danescu, Dorina Ciuce and Cassian Sitaru
    Citation: Orphanet Journal of Rare Diseases 2015 10:48
  2. Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a c...

    Authors: Konstantin Mechler, William K Mountford, Georg F Hoffmann and Markus Ries
    Citation: Orphanet Journal of Rare Diseases 2015 10:46
  3. Late Onset Tay- Sachs disease (LOTS) is a rare neurodegenerative lysosomal storage disease which results from mutations in the gene encoding the α subunit (HEXA) of β-hexosaminidase enzyme (HexA). At the prese...

    Authors: Etty Osher, Aviva Fattal-Valevski, Liora Sagie, Nataly Urshanski, Nadav Sagiv, Leah Peleg, Tally Lerman-Sagie, Ari Zimran, Deborah Elstein, Ruth Navon, Avi Valevski and Naftali Stern
    Citation: Orphanet Journal of Rare Diseases 2015 10:45
  4. Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe intellectual disability (ID) in females. Different CASK ...

    Authors: Ute Moog, Tatjana Bierhals, Kristina Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, Christine E de Die-Smulders, Christina Evers, Maja Hempel, Marco Henneke, Helger Yntema, Björn Menten, Joachim Pietz, Rolph Pfundt, Jörg Schmidtke…
    Citation: Orphanet Journal of Rare Diseases 2015 10:44
  5. Mucopolysaccharidosis II (MPS II) is associated with a broad spectrum of chronic and progressive, life-limiting symptoms. Idursulfase is approved for MPS II enzyme replacement therapy (ERT) in over 50 countrie...

    Authors: Nathalie Guffon, Bénédicte Heron, Brigitte Chabrol, François Feillet, Vincent Montauban and Vassili Valayannopoulos
    Citation: Orphanet Journal of Rare Diseases 2015 10:43
  6. The lysosomal storage disorder, mucopolysaccharidosis I (MPS I), commonly manifests with upper airway obstruction and sleep disordered breathing (SDB). The success of current therapies, including haematopoieti...

    Authors: Abhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, Jean Mercer, Heather J Church, Karen L Tylee, Robert F Wynn, Frits A Wijburg, Simon A Jones, Iain A Bruce and Brian W Bigger
    Citation: Orphanet Journal of Rare Diseases 2015 10:42
  7. We provide the first empirical exploration of disease-related innovation by patients and their caregivers. Our aims were to explore to what degree do patients develop innovative solutions; how many of these ar...

    Authors: Pedro Oliveira, Leid Zejnilovic, Helena Canhão and Eric von Hippel
    Citation: Orphanet Journal of Rare Diseases 2015 10:41
  8. TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patient...

    Authors: Johannes Koch, Peter Freisinger, René G Feichtinger, Franz A Zimmermann, Christian Rauscher, Hans P Wagentristl, Vassiliki Konstantopoulou, Rainer Seidl, Tobias B Haack, Holger Prokisch, Uwe Ahting, Wolfgang Sperl, Johannes A Mayr and Esther M Maier
    Citation: Orphanet Journal of Rare Diseases 2015 10:40
  9. Progressive Hemifacial Atrophy (PHA) is an acquired, typically unilateral, facial distortion with unknown etiology. The true incidence of this disorder has not been reported, but it is often regarded as a subt...

    Authors: Stanislav N Tolkachjov, Nirav G Patel and Megha M Tollefson
    Citation: Orphanet Journal of Rare Diseases 2015 10:39
  10. Fatty acid amide hydrolase 2 (FAAH2) is a hydrolase that mediates the degradation of endocannabinoids in man. Alterations in the endocannabinoid system are associated with a wide variety of neurologic and psyc...

    Authors: Sandra Sirrs, Clara DM van Karnebeek, Xiaoxue Peng, Casper Shyr, Maja Tarailo-Graovac, Rupasri Mandal, Daniel Testa, Devin Dubin, Gregory Carbonetti, Steven E Glynn, Bryan Sayson, Wendy P Robinson, Beomsoo Han, David Wishart, Colin J Ross, Wyeth W Wasserman…
    Citation: Orphanet Journal of Rare Diseases 2015 10:38
  11. The Editors of Orphanet Journal of Rare Diseases would like to thank all our reviewers who have contributed to the journal in volume 9 (2014).

    Authors: Ségolène Aymé
    Citation: Orphanet Journal of Rare Diseases 2015 10:37
  12. Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administr...

    Authors: Marieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, Lut Boks, Franco Cecchi, Patrick B Deegan, Ulla Feldt-Rasmussen, Tarekegn Geberhiwot, Dominique P Germain, Chris Hendriksz, Derralynn A Hughes, Ilkka Kantola, Nesrin Karabul, Christine Lavery, Gabor E Linthorst, Atul Mehta…
    Citation: Orphanet Journal of Rare Diseases 2015 10:36
  13. Because of their individual rarity, genetic diseases and other types of rare diseases are under-represented in healthcare coding systems; this contributes to a lack of ascertainment and recognition of their im...

    Authors: Ségolène Aymé, Bertrand Bellet and Ana Rath
    Citation: Orphanet Journal of Rare Diseases 2015 10:35
  14. Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10–20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterizat...

    Authors: Ilan Ben-Zvi, Corinne Herskovizh, Olga Kukuy, Yonatan Kassel, Chagai Grossman and Avi Livneh
    Citation: Orphanet Journal of Rare Diseases 2015 10:34
  15. Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which s...

    Authors: Sabine Duchatelet and Alain Hovnanian
    Citation: Orphanet Journal of Rare Diseases 2015 10:33
  16. SMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT). Familial occurrence of this neoplasm was described previous...

    Authors: Joanna Moes-Sosnowska, Lukasz Szafron, Dorota Nowakowska, Agnieszka Dansonka-Mieszkowska, Agnieszka Budzilowska, Bozena Konopka, Joanna Plisiecka-Halasa, Agnieszka Podgorska, Iwona K Rzepecka and Jolanta Kupryjanczyk
    Citation: Orphanet Journal of Rare Diseases 2015 10:32
  17. Multiple sulfatase deficiency is a rare inherited metabolic disorder caused by mutations in the SUMF1 gene. The disease remains poorly known, often leading to a late diagnosis. This study aimed to provide improve...

    Authors: Frédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, Nathalie Bednarek, Catherine Caillaud, Yves Chaix, Marie-Ange Delrue, Anne Dusser, Roseline Froissart, Roselyne Garnotel, Nathalie Guffon, André Megarbane, Hélène Ogier de Baulny, Jean-Michel Pédespan, Samia Pichard, Vassili Valayannopoulos…
    Citation: Orphanet Journal of Rare Diseases 2015 10:31
  18. The natural history of pulmonary Langerhans cell histiocytosis (PLCH) has been unclear due to the absence of prospective studies. The rate of patients who experience an early progression of their disease is un...

    Authors: Abdellatif Tazi, Constance de Margerie, Jean Marc Naccache, Stéphanie Fry, Stéphane Dominique, Stéphane Jouneau, Gwenaël Lorillon, Emmanuelle Bugnet, Raphael Chiron, Benoit Wallaert, Dominique Valeyre and Sylvie Chevret
    Citation: Orphanet Journal of Rare Diseases 2015 10:30
  19. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan....

    Authors: Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2015 10:29
  20. A prevalence threshold to define rare diseases is needed for orphan drug designation. Here, we propose a bottom-up approach to defining rare diseases for China, based on the minimum number of patients needed f...

    Authors: Yazhou Cui and Jinxiang Han
    Citation: Orphanet Journal of Rare Diseases 2015 10:28
  21. Snyder-Robinson Syndrome (SRS) is an X-linked intellectual disability disorder also characterized by osteoporosis, scoliosis, and dysmorphic facial features. It is caused by mutations in SMS, a ubiquitously expre...

    Authors: Jessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, William P Bone, Valerie Maduro, John Accardi, David R Adams, Charles E Schwartz, Joy Norris, Tim Wood, Rachel I Gafni, Michael T Collins, Laura L Tosi, Thomas C Markello, William A Gahl and Cornelius F Boerkoel
    Citation: Orphanet Journal of Rare Diseases 2015 10:27
  22. Hereditary medullary thyroid carcinoma (MTC) is caused by germ-line gain of function mutations in the RET proto-oncogene, and a phenotypic variability among carriers of the same mutation has been reported. We rec...

    Authors: Carla Colombo, Emanuela Minna, Maria Grazia Rizzetti, Paola Romeo, Daniele Lecis, Luca Persani, Piera Mondellini, Marco A Pierotti, Angela Greco, Laura Fugazzola and Maria Grazia Borrello
    Citation: Orphanet Journal of Rare Diseases 2015 10:25
  23. Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases in humans and has widely variable expressivity. Oral manifestations are common, but there are no studies that investigated functional a...

    Authors: Karin Soares Cunha, Rafaela Elvira Rozza-de-Menezes, Eloá Borges Luna, Lilian Machado de Sousa Almeida, Raquel Richelieu Lima de Andrade Pontes, Paula Nascimento Almeida, Letícia Vidaurre de Aguiar and Eliane Pedra Dias
    Citation: Orphanet Journal of Rare Diseases 2015 10:24
  24. Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion mol...

    Authors: Maja Tarailo-Graovac, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Margot Van Allen, Jacob Rozmus, Casper Shyr, Roberta Biancheri, Tracey Oh, Bryan Sayson, Mirafe Lafek, Colin J Ross, Wendy P Robinson, Wyeth W Wasserman, Andrea Rossi and Clara DM van Karnebeek
    Citation: Orphanet Journal of Rare Diseases 2015 10:23
  25. Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months.

    Authors: Simona Fecarotta, Alfonso Romano, Roberto Della Casa, Ennio Del Giudice, Diana Bruschini, Giuseppina Mansi, Bruno Bembi, Andrea Dardis, Agata Fiumara, Maja Di Rocco, Graziella Uziel, Anna Ardissone, Dario Roccatello, Mirella Alpa, Enrico Bertini, Adele D’Amico…
    Citation: Orphanet Journal of Rare Diseases 2015 10:22
  26. LCHADD is a long-fatty acid oxidation disorder with immediate symptoms and long-term complications. We evaluated data on clinical status, biochemical parameters, therapeutic regimens and outcome of Austrian LC...

    Authors: Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, Vassiliki Konstantopoulou, Esther M Maier, Dorothea Möslinger, Barbara Plecko, Wolfgang Sperl, Barbara Volkmar and Sabine Scholl-Bürgi
    Citation: Orphanet Journal of Rare Diseases 2015 10:21
  27. Hemophagocytic lymphohistiocytosis (HLH) is a relatively rare but life-threatening disease with confusing clinical manifestations, rapidly deteriorating health, high morbidity and mortality.

    Authors: Fei Li, Yijun Yang, Fengyan Jin, Casey Dehoedt, Jia Rao, Yulan Zhou, Pu Li, Ganping Yang, Min Wang, Rongyan Zhang and Ye Yang
    Citation: Orphanet Journal of Rare Diseases 2015 10:20
  28. Despite their limited licensed indications, anti–interleukin-1 (anti–IL-1) agents are often used in clinical practice for an increasing number of auto-inflammatory diseases. We conducted a national cross-secti...

    Authors: Linda Rossi-Semerano, Bruno Fautrel, Daniel Wendling, Eric Hachulla, Caroline Galeotti, Luca Semerano, Isabelle Touitou and Isabelle Koné-Paut
    Citation: Orphanet Journal of Rare Diseases 2015 10:19
  29. Uncooked corn-starch (UCCS) has been the mainstay of therapy for the hepatic glycogen storage diseases (GSD) but is not always effective. A new starch (WMHMS) has demonstrated a more favourable short-term meta...

    Authors: Kaustuv Bhattacharya, Helen Mundy, Maggie F Lilburn, Michael P Champion, David W Morley and François Maillot
    Citation: Orphanet Journal of Rare Diseases 2015 10:18
  30. Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and meta-analysis to determine the extent and signific...

    Authors: Serwet Demirdas, Katie E Coakley, Peter H Bisschop, Carla E M Hollak, Annet M Bosch and Rani H Singh
    Citation: Orphanet Journal of Rare Diseases 2015 10:17
  31. For rare serious and life-threatening disorders, there is a tremendous challenge of transforming scientific discoveries into new drug treatments. This challenge has been recognized by all stakeholders who endo...

    Authors: Emil D Kakkis, Mary O’Donovan, Gerald Cox, Mark Hayes, Federico Goodsaid, PK Tandon, Pat Furlong, Susan Boynton, Mladen Bozic, May Orfali and Mark Thornton
    Citation: Orphanet Journal of Rare Diseases 2015 10:16
  32. Early-onset hearing loss is mostly of genetic origin. The complexity of the hearing process is reflected by its extensive genetic heterogeneity, with probably many causative genes remaining to be identified. H...

    Authors: Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, Martin Ptok, Morag A Lewis, Holger Thiele, Susanne Morlot, Markus M Hess, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P Steel, Marlies Knipper and Hanno Jörn Bolz
    Citation: Orphanet Journal of Rare Diseases 2015 10:15
  33. Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase that catalyzes the conversion of phenylalanine to tyrosine, using tetrahydrobiopterin (BH4) as coe...

    Authors: Iris Scala, Daniela Concolino, Roberto Della Casa, Anna Nastasi, Carla Ungaro, Serena Paladino, Brunella Capaldo, Margherita Ruoppolo, Aurora Daniele, Giuseppe Bonapace, Pietro Strisciuglio, Giancarlo Parenti and Generoso Andria
    Citation: Orphanet Journal of Rare Diseases 2015 10:14
  34. Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. We report a new NFU1 mutated patient presenting with...

    Authors: Davide Tonduti, Imen Dorboz, Apolline Imbard, Abdelhamid Slama, Audrey Boutron, Samia Pichard, Monique Elmaleh, Louis Vallée, Jean François Benoist, Heléne Ogier and Odile Boespflug-Tanguy
    Citation: Orphanet Journal of Rare Diseases 2015 10:13
  35. Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders.

    Authors: Saadet Mercimek-Mahmutoglu, Sarah Sidky, Keith Hyland, Jaina Patel, Elizabeth J Donner, William Logan, Roberto Mendoza-Londono, Mahendranath Moharir, Julian Raiman, Andreas Schulze, Komudi Siriwardena, Grace Yoon and Lianna Kyriakopoulou
    Citation: Orphanet Journal of Rare Diseases 2015 10:12
  36. Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysfunction (C1-INH-HAE type II) is a rare disease characterized by recurrent episodes of edema with an estimated frequency of 1:50,0...

    Authors: Andrea Zanichelli, Francesco Arcoleo, Maria Pina Barca, Paolo Borrelli, Maria Bova, Mauro Cancian, Marco Cicardi, Enrico Cillari, Caterina De Carolis, Tiziana De Pasquale, Isabella Del Corso, Paola Cesinaro Di Rocco, Maria Domenica Guarino, Ilaria Massaro, Paola Minale, Vincenzo Montinaro…
    Citation: Orphanet Journal of Rare Diseases 2015 10:11
  37. High throughput assays tend to be expensive per subject. Often studies are limited not so much by the number of subjects available as by assay costs, making assay choice a critical issue. We have developed a f...

    Authors: Desmond D Campbell, Robert M Porsch, Stacey S Cherny, Valeria Capra, Elisa Merello, Patrizia De Marco, Pak C Sham and Maria-Mercè Garcia-Barceló
    Citation: Orphanet Journal of Rare Diseases 2015 10:10
  38. Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular t...

    Authors: Laurence Campens, Bert Callewaert, Laura Muiño Mosquera, Marjolijn Renard, Sofie Symoens, Anne De Paepe, Paul Coucke and Julie De Backer
    Citation: Orphanet Journal of Rare Diseases 2015 10:9
  39. The presence of hypovitaminosis D in patients with autoimmune bullous skin diseases, such as pemphigus vulgaris (PV) and bullous pemphigoid (BP), is debated. In a previous study we found an increased prevalenc...

    Authors: Angelo Valerio Marzano, Valentina Trevisan, Elisa Cairoli, Cristina Eller-Vainicher, Valentina Morelli, Anna Spada, Carlo Crosti and Iacopo Chiodini
    Citation: Orphanet Journal of Rare Diseases 2015 10:8
  40. Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine ph...

    Authors: Irène Ceballos-Picot, Aurélia Le Dantec, Anaïs Brassier, Jean-Philippe Jaïs, Morgan Ledroit, Julie Cahu, Hang-Korng Ea, Bertrand Daignan-Fornier and Benoît Pinson
    Citation: Orphanet Journal of Rare Diseases 2015 10:7
  41. Synovial sarcoma (SS) is a rare tumor, with dismal survival when metastatic. The role of adjuvant chemotherapy is debated. New prognostic and predictive factors are needed.

    Authors: Emanuela Palmerini, Maria Serena Benassi, Irene Quattrini, Laura Pazzaglia, Davide Donati, Stefania Benini, Gabriella Gamberi, Marco Gambarotti, Piero Picci and Stefano Ferrari
    Citation: Orphanet Journal of Rare Diseases 2015 10:6
  42. Currently, there is no cure for Duchenne and Becker muscular dystrophies (DMD/BMD). However, clinical trials with new therapeutic strategies are being conducted or considered. A comprehensive database is criti...

    Authors: Xihua Li, Lei Zhao, Shuizhen Zhou, Chaoping Hu, Yiyun Shi, Wei Shi, Hui Li, Fang Liu, Bingbing Wu and Yi Wang
    Citation: Orphanet Journal of Rare Diseases 2015 10:5
  43. Congenital absence of the inferior vena cava (AIVC) is a rare malformation which may be associated with an increased risk for deep vein thrombosis (DVT). However, the role of thrombophilia in AIVC and DVT is u...

    Authors: Tolga Atilla Sagban, Rüdiger E Scharf, Markus U Wagenhäuser, Alexander Oberhuber, Hubert Schelzig, Klaus Grabitz and Mansur Duran
    Citation: Orphanet Journal of Rare Diseases 2015 10:3
  44. Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the...

    Authors: Emmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, Elisabeth Jouve, Guilhem Solé, Aleksandra Nadaj-Pakleza, Julien Niederhauser, Estelle Charles, Elisabeth Ollagnon, Françoise Bouhour, Sabrina Sacconi, Andoni Echaniz-Laguna, Claude Desnuelle, Christine Tranchant, Christophe Vial, Frederique Magdinier…
    Citation: Orphanet Journal of Rare Diseases 2015 10:2
  45. Pulmonary arterial hypertension (PAH) is a rare and progressive vascular disorder characterized by increased pulmonary vascular resistance and right heart failure. The aim of this study was to analyze 5′UTR re...

    Authors: Guillermo Pousada, Adolfo Baloira and Diana Valverde
    Citation: Orphanet Journal of Rare Diseases 2015 10:1
  46. Sneddon’s syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa(LR). The Orpha number for SS is ORPHA820. It has been...

    Authors: Shengjun Wu, Ziqi Xu and Hui Liang
    Citation: Orphanet Journal of Rare Diseases 2014 9:215
  47. A disease severity score in hereditary hemorrhagic telangiectasia (HHT) would be a useful tool for assessing burden of disease and for designing clinical trials. Here, we propose the first known HHT severity s...

    Authors: Giuseppe A Latino, Helen Kim, Jeffrey Nelson, Ludmila Pawlikowska, William Young and Marie E Faughnan
    Citation: Orphanet Journal of Rare Diseases 2014 9:188
  48. Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion that folinic acid therapy mig...

    Authors: Pilar Quijada-Fraile, Mar O’Callaghan, Elena Martín-Hernández, Raquel Montero, Àngels Garcia-Cazorla, Ana Martínez de Aragón, Jordi Muchart, Ignacio Málaga, Rafael Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Joaquín Arenas, Miguel Angel Martin…
    Citation: Orphanet Journal of Rare Diseases 2014 9:217
  49. The efficacy of thymectomy in patients with non-thymomatous Myasthenia Gravis (MG) is still unclear. Main limitations have been variable outcome definitions, lack of a control group and adjustment for confound...

    Authors: Carolina Barnett, Hans D Katzberg, Shaf Keshavjee and Vera Bril
    Citation: Orphanet Journal of Rare Diseases 2014 9:214