Skip to main content

Articles

Page 60 of 81

  1. Smith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep disorders. Ninety percent of the cases are due to a...

    Authors: Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Hélène de Leersnyder, Patricia Franco, Vincent Des Portes, Patrick Edery and Caroline Demily
    Citation: Orphanet Journal of Rare Diseases 2015 10:111
  2. Usher syndrome (USH) is the most common disease causing combined deafness and blindness. It is predominantly an autosomal recessive genetic disorder with occasionally digenic cases. Molecular diagnosis of USH ...

    Authors: Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen and Ruifang Sui
    Citation: Orphanet Journal of Rare Diseases 2015 10:110
  3. Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and ...

    Authors: Iselin Marie Wedding, Mette Kroken, Sandra Pilar Henriksen, Kaja Kristine Selmer, Torunn Fiskerstrand, Per Morten Knappskog, Tone Berge and Chantal ME Tallaksen
    Citation: Orphanet Journal of Rare Diseases 2015 10:108
  4. Animals that accurately model human disease are invaluable in medical research, allowing a critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in p...

    Authors: Ashish R. Pinnapureddy, Cherie Stayner, John McEwan, Olivia Baddeley, John Forman and Michael R. Eccles
    Citation: Orphanet Journal of Rare Diseases 2015 10:107
  5. Children with Prader-Willi Syndrome (PWS) have been considered at risk for central adrenal insufficiency (CAI). Hypothalamic dysregulation has been proposed as a common mechanism underlying both stress-induced...

    Authors: Veronique Beauloye, K. Dhondt, W. Buysse, A. Nyakasane, F. Zech, J. De Schepper, S. Van Aken, K. De Waele, M. Craen, I. Gies, I. Francois, D. Beckers, A. Desloovere, G. Francois and M. Cools
    Citation: Orphanet Journal of Rare Diseases 2015 10:106
  6. Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been...

    Authors: Lindsay M. Oberman, Luigi Boccuto, Lauren Cascio, Sara Sarasua and Walter E. Kaufmann
    Citation: Orphanet Journal of Rare Diseases 2015 10:105
  7. Osteogenesis imperfecta (OI) is a group of genetic heterogeneous connective tissue disorders characterized by increased bone fragility and susceptibility to fractures. Laboratory diagnosis relies on time-consu...

    Authors: Uschi Lindert, Marius Kraenzlin, Ana Belinda Campos-Xavier, Matthias R. Baumgartner, Luisa Bonafé, Cecilia Giunta and Marianne Rohrbach
    Citation: Orphanet Journal of Rare Diseases 2015 10:104
  8. Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is thought to be a genetic disease caused by de novo mutations, though causative mutations have yet to be i...

    Authors: Sarah F. Barclay, Casey M. Rand, Lauren A. Borch, Lisa Nguyen, Paul A. Gray, William T. Gibson, Richard J. A. Wilson, Paul M. K. Gordon, Zaw Aung, Elizabeth M. Berry-Kravis, Diego Ize-Ludlow, Debra E. Weese-Mayer and N. Torben Bech-Hansen
    Citation: Orphanet Journal of Rare Diseases 2015 10:103
  9. In dystrophin-deficient muscles of Duchenne Muscular Dystrophy (DMD) patients and the mdx mouse model, nitric oxide (NO) signalling is impaired. Previous studies have shown that NO-donating drugs are beneficial i...

    Authors: Daniela Miglietta, Clara De Palma, Clara Sciorati, Barbara Vergani, Viviana Pisa, Antonello Villa, Ennio Ongini and Emilio Clementi
    Citation: Orphanet Journal of Rare Diseases 2015 10:101
  10. EU regulation 726/2004 authorises manufacturers to provide drugs to patients on a temporary basis when marketing authorisation sought centrally for the entire EU is still pending. Individual Member States reta...

    Authors: Hanna I. Hyry, Jeremy Manuel, Timothy M. Cox and Jonathan C. P. Roos
    Citation: Orphanet Journal of Rare Diseases 2015 10:100
  11. This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subuni...

    Authors: Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando Corrales, Maria Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris Hofstede, George Hoganson, Wuh-Liang Hwu, Philip James…
    Citation: Orphanet Journal of Rare Diseases 2015 10:99
  12. Idiopathic pulmonary hemosiderosis (IPH) is a rare disorder of unknown etiology characterized by chronic pulmonary hemorrhage and presents with a triad of anemia, hemoptysis and pulmonary infiltrates. IPH is a...

    Authors: Chana I.C. Chin, Shirleen Loloyan Kohn, Thomas G. Keens, Monique F. Margetis and Roberta M. Kato
    Citation: Orphanet Journal of Rare Diseases 2015 10:98
  13. Uveitis describes a heterogeneous group of conditions characterized by intraocular inflammation. Since most of the sight-threatening forms of uveitis are individually rare, there has been an increasing tendenc...

    Authors: Alastair K. Denniston, Gary N. Holland, Andrej Kidess, Robert B. Nussenblatt, Annabelle A. Okada, James T. Rosenbaum and Andrew D. Dick
    Citation: Orphanet Journal of Rare Diseases 2015 10:97
  14. More than 70 % of the cases of congenital deafness are of genetic origin, of which approximately 80 % are non-syndromic and show autosomal recessive transmission (DFNB forms). To date, 60 DFNB genes have been ...

    Authors: Malika Dahmani, Fatima Ammar-Khodja, Crystel Bonnet, Gaelle M. Lefèvre, Jean-Pierre Hardelin, Hassina Ibrahim, Zahia Mallek and Christine Petit
    Citation: Orphanet Journal of Rare Diseases 2015 10:96
  15. Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapam...

    Authors: Teguh Haryo Sasongko, Nur Farrah Dila Ismail, Nik Mohamad Ariff Nik Abdul Malik and Z. A. M. H. Zabidi-Hussin
    Citation: Orphanet Journal of Rare Diseases 2015 10:95
  16. Metachromatic Leukodystrophy (MLD) is a rare, fatal demyelinating disorder with limited treatment options. Published outcomes after hematopoietic stem cell transplantation (HSCT) are scant and mixed. We report...

    Authors: Alexander A. Boucher, Weston Miller, Ryan Shanley, Richard Ziegler, Troy Lund, Gerald Raymond and Paul J. Orchard
    Citation: Orphanet Journal of Rare Diseases 2015 10:94
  17. Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane, isofluran...

    Authors: Henry Rosenberg, Neil Pollock, Anja Schiemann, Terasa Bulger and Kathryn Stowell
    Citation: Orphanet Journal of Rare Diseases 2015 10:93
  18. In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase t...

    Authors: Daniela Melis, Alessandro Rossi, Rosario Pivonello, Mariacarolina Salerno, Francesca Balivo, Simona Spadarella, Giovanna Muscogiuri, Roberto Della Casa, Pietro Formisano, Generoso Andria, Annamaria Colao and Giancarlo Parenti
    Citation: Orphanet Journal of Rare Diseases 2015 10:91
  19. Cystinosis is a rare lysosomal disorder leading to end stage renal disease in more than 90 % of patients before 20 years of age. Data about safety and efficiency of renal transplantation in patients with cysti...

    Authors: Camille Cohen, Marina Charbit, Bernadette Chadefaux-Vekemans, Magali Giral, Valérie Garrigue, Michèle Kessler, Corinne Antoine, Renaud Snanoudj, Patrick Niaudet, Henri Kreis, Christophe Legendre and Aude Servais
    Citation: Orphanet Journal of Rare Diseases 2015 10:90
  20. Idiopathic achalasia is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter relaxation in response to deglutition. Patients with acha...

    Authors: Dhyanesh A. Patel, Hannah P. Kim, Jerry S. Zifodya and Michael F. Vaezi
    Citation: Orphanet Journal of Rare Diseases 2015 10:89
  21. Improved knowledge of the quality of life (QoL) of locked-in syndrome (LIS) patients have implications for managing their care, and assists clinicians in choosing the most appropriate interventions. We perform...

    Authors: Marie-Christine Rousseau, Karine Baumstarck, Marine Alessandrini, Véronique Blandin, Thierry Billette de Villemeur and Pascal Auquier
    Citation: Orphanet Journal of Rare Diseases 2015 10:88
  22. Pompe disease is a proximal myopathy. We investigated whether exercise training is a safe and useful adjuvant therapy for adult Pompe patients, receiving enzyme replacement therapy.

    Authors: Linda E. M. van den Berg, Marein M. Favejee, Stephan C. A. Wens, Michelle E. Kruijshaar, Stephan F. E. Praet, Arnold J. J. Reuser, Johannes B. J. Bussmann, Pieter A. van Doorn and Ans T. van der Ploeg
    Citation: Orphanet Journal of Rare Diseases 2015 10:87
  23. A study was designed to identify the source of fever in a patient with post-polycythemia myelofibrosis, associated with clonal Janus Kinase 2 (JAK2) mutation involving duplication of exon 12. The patient presente...

    Authors: Yael Shinar, Tali Tohami, Avi Livneh, Ginette Schiby, Abraham Hirshberg, Meital Nagar, Itamar Goldstein, Rinat Cohen, Olga Kukuy, Ora Shubman, Yehonatan Sharabi, Eva Gonzalez-Roca, Juan I. Arostegui, Gideon Rechavi, Ninnette Amariglio and Ophira Salomon
    Citation: Orphanet Journal of Rare Diseases 2015 10:86
  24. Cone and cone-rod dystrophies are clinically and genetically heterogeneous inherited retinal disorders with predominant cone impairment. They should be distinguished from the more common group of rod-cone dyst...

    Authors: Elise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, Eric Souied, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz and Isabelle Audo
    Citation: Orphanet Journal of Rare Diseases 2015 10:85
  25. Grebe dysplasia, Hunter-Thompson dysplasia, and du Pan dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by short stature, severe acromesomelic shor...

    Authors: Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D. Mueller, Birgit S. Budde, Christopher T. Gordon, Denise Horn, Petra Seemann and Guntram Borck
    Citation: Orphanet Journal of Rare Diseases 2015 10:84
  26. Alström syndrome is a rare inherited ciliopathy with progressive multisystem involvement. Dilated cardiomyopathy is common in infancy and recurs or presents de novo in adults with high rates of premature cardi...

    Authors: Nicola C. Edwards, William E. Moody, Mengshi Yuan, Adrian T. Warfield, Robert Cramb, Richard B. Paisey, Tarekegn Geberhiwot and Richard P. Steeds
    Citation: Orphanet Journal of Rare Diseases 2015 10:83
  27. Among the challenges confronting patients with rare diseases is a dearth of treatment options. The development of safe and effective new therapies is hampered by challenges associated with conducting clinical ...

    Authors: Pat Furlong, John F. P. Bridges, Lawrence Charnas, Justin R. Fallon, Ryan Fischer, Kevin M. Flanigan, Timothy R. Franson, Neera Gulati, Craig McDonald, Holly Peay and H. Lee Sweeney
    Citation: Orphanet Journal of Rare Diseases 2015 10:82
  28. Gastrointestinal (GI) disturbances such as diarrhea and flatulence are the most frequent adverse effects associated with miglustat therapy in type 1 Gaucher disease (GD1) and Niemann-Pick disease type C (NP-C)...

    Authors: Tatiana Remenova, Olivier Morand, Dominick Amato, Harbajan Chadha-Boreham, Scott Tsurutani and Thorsten Marquardt
    Citation: Orphanet Journal of Rare Diseases 2015 10:81
  29. The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their famil...

    Authors: Annet M Bosch, Alberto Burlina, Amy Cunningham, Esther Bettiol, Flavie Moreau-Stucker, Ekaterina Koledova, Khadra Benmedjahed and Antoine Regnault
    Citation: Orphanet Journal of Rare Diseases 2015 10:80
  30. Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mi...

    Authors: Sacha Ferdinandusse, Marisa W. Friederich, Alberto Burlina, Jos P. N. Ruiter, Curtis R. Coughlin II, Megan K. Dishop, Renata C. Gallagher, Jirair K. Bedoyan, Frédéric M. Vaz, Hans R. Waterham, Katherine Gowan, Kathryn Chatfield, Kaitlyn Bloom, Michael J. Bennett, Orly Elpeleg, Johan L. K. Van Hove…
    Citation: Orphanet Journal of Rare Diseases 2015 10:79
  31. Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequen...

    Authors: Anne-Katrin Giese, Hermann Mascher, Ulrike Grittner, Sabrina Eichler, Guido Kramp, Jan Lukas, Danielle te Vruchte, Nada Al Eisa, Mario Cortina-Borja, Forbes D Porter, Frances M Platt and Arndt Rolfs
    Citation: Orphanet Journal of Rare Diseases 2015 10:78
  32. We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome. P...

    Authors: Fawaz Awad, Sophie Georgin-Lavialle, Anne Brignier, Coralie Derrieux, Achille Aouba, Katia Stankovic-Stojanovic, Gilles Grateau, Serge Amselem, Olivier Hermine and Sonia-Athina Karabina
    Citation: Orphanet Journal of Rare Diseases 2015 10:76
  33. Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs). In our previous study, we identified a unique individual ...

    Authors: F. J. Probst, R. A. James, L. C. Burrage, J. A. Rosenfeld, T. P. Bohan, C. H. Ward Melver, P. Magoulas, E. Austin, A. I. A. Franklin, M. Azamian, F. Xia, A. Patel, W. Bi, C. Bacino, J.W. Belmont, S. M. Ware…
    Citation: Orphanet Journal of Rare Diseases 2015 10:75
  34. CMT1A is the most common inherited peripheral neuropathy. There is currently no approved treatment. We performed a meta-analysis including four randomized, double-blind, Placebo-controlled clinical trials to a...

    Authors: Jonas Mandel, Viviane Bertrand, Philippe Lehert, Shahram Attarian, Laurent Magy, Joëlle Micallef, Ilya Chumakov, Catherine Scart-Grès, Mickael Guedj and Daniel Cohen
    Citation: Orphanet Journal of Rare Diseases 2015 10:74
  35. Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less frequently reported ...

    Authors: Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Christine Fauth, Elisabeth Steichen, Karin Pichler, Dirk J. Lefeber, Gert Matthjis, Liesbeth Keldermans, Kathrin Maurer, Johannes Zschocke and Daniela Karall
    Citation: Orphanet Journal of Rare Diseases 2015 10:73
  36. White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investig...

    Authors: Wenping Cai, Beizhan Jiang, Tienan Feng, Jinfeng Xue, Jianhua Yang, Zhenghu Chen, Junjun Liu, Rongbin Wei, Shangfeng Liu, Shouliang Zhao and Xiaoping Wang
    Citation: Orphanet Journal of Rare Diseases 2015 10:72

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2015 10:119

  37. Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS...

    Authors: Julie Sarfati, Claire Bouvattier, Hélène Bry-Gauillard, Alejandra Cartes, Jérôme Bouligand and Jacques Young
    Citation: Orphanet Journal of Rare Diseases 2015 10:71
  38. Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial co...

    Authors: Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, Flemming Wibrand, Helle Bagterp Klenow, Michael Beck, Yasmina Amraoui, Laila Arash, Jens Fogh, Øivind Nilssen, Christine I Dali and Allan Meldgaard Lund
    Citation: Orphanet Journal of Rare Diseases 2015 10:70
  39. POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patient...

    Authors: Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á. Martos-Moreno, Luan T. Tran, William Benko, Marjo S. van der Knaap, Rosalina M. L. van Spaendonk, Nicole I. Wolf and Geneviève Bernard
    Citation: Orphanet Journal of Rare Diseases 2015 10:69
  40. We aimed to assess the current state of PKU screening and management in the region of southeastern Europe.

    Authors: Mojca Zerjav Tansek, Urh Groselj, Natalija Angelkova, Dana Anton, Ivo Baric, Maja Djordjevic, Lindita Grimci, Maria Ivanova, Adil Kadam, Vjosa Kotori, Hajrija Maksic, Oana Marginean, Otilia Margineanu, Olivera Miljanovic, Florentina Moldovanu, Mariana Muresan…
    Citation: Orphanet Journal of Rare Diseases 2015 10:68

    The Letter to the Editor to this article has been published in Orphanet Journal of Rare Diseases 2016 11:112

  41. Idiopathic non-cirrhotic portal hypertension (INCPH) is a rare disease characterized of intrahepatic portal hypertension in the absence of cirrhosis or other causes of liver disease and splanchnic venous throm...

    Authors: Jeoffrey NL Schouten, Joanne Verheij and Susana Seijo
    Citation: Orphanet Journal of Rare Diseases 2015 10:67
  42. Wolfram Syndrome (WFS) is known to involve diabetes mellitus, diabetes insipidus, optic nerve atrophy, vision loss, hearing impairment, motor abnormalities, and neurodegeneration, but has been less clearly lin...

    Authors: Allison N. Bischoff, Angela M. Reiersen, Anna Buttlaire, Amal Al-lozi, Tasha Doty, Bess A. Marshall and Tamara Hershey
    Citation: Orphanet Journal of Rare Diseases 2015 10:66
  43. Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurolog...

    Authors: Marc C Patterson, Eugen Mengel, Marie T Vanier, Barbara Schwierin, Audrey Muller, Peter Cornelisse and Mercè Pineda
    Citation: Orphanet Journal of Rare Diseases 2015 10:65
  44. GD1-DS3 is an integrated assessment of type 1 Gaucher disease (GD1) burden based on bone, hematologic and visceral domains. We investigated this disease severity scoring system (DS3) methodology for initial as...

    Authors: Neal J. Weinreb, David N. Finegold, Eleanor Feingold, Zhen Zeng, Barry E. Rosenbloom, Suma P. Shankar and Dominick Amato
    Citation: Orphanet Journal of Rare Diseases 2015 10:64
  45. Mucocutaneous blistering is characteristic of autoimmune bullous dermatoses (AIBD). Blisters are caused by autoantibodies directed against structural components of the skin. Hence, detection of specific autoan...

    Authors: Wiebke Prüßmann, Jasper Prüßmann, Hiroshi Koga, Andreas Recke, Hiroaki Iwata, David Juhl, Siegfried Görg, Reinhard Henschler, Takashi Hashimoto, Enno Schmidt, Detlef Zillikens, Saleh M. Ibrahim and Ralf J. Ludwig
    Citation: Orphanet Journal of Rare Diseases 2015 10:63
  46. In 2009, a worldwide supply constraint of imiglucerase led to treatment modifications or interruptions for patients with Gaucher disease (GD) type 1. In France, joint treatment recommendations were issued to p...

    Authors: Jérôme Stirnemann, Christian Rose, Christine Serratrice, Florence Dalbies, Olivier Lidove, Agathe Masseau, Yves-Marie Pers, Camille Baron and Nadia Belmatoug
    Citation: Orphanet Journal of Rare Diseases 2015 10:62
  47. Anti-signal recognition particle (SRP) antibodies are used as serological markers of necrotizing myopathy, which is characterized by many necrotic and regenerative muscle fibers without or with minimal inflamm...

    Authors: Shigeaki Suzuki, Atsuko Nishikawa, Masataka Kuwana, Hiroaki Nishimura, Yurika Watanabe, Jin Nakahara, Yukiko K. Hayashi, Norihiro Suzuki and Ichizo Nishino
    Citation: Orphanet Journal of Rare Diseases 2015 10:61