Skip to main content

Articles

Page 71 of 76

  1. Pompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The majority of adult patients have slowly progressive disease, which gradually impairs mobility and respiratory...

    Authors: Deniz Güngör, Juna M de Vries, Wim CJ Hop, Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg and Marloes LC Hagemans
    Citation: Orphanet Journal of Rare Diseases 2011 6:34
  2. Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyrami...

    Authors: Nathaniel Robb Whaley, Shinsuke Fujioka and Zbigniew K Wszolek
    Citation: Orphanet Journal of Rare Diseases 2011 6:33
  3. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterin...

    Authors: Katharina Rall, Gianmaria Barresi, Michael Walter, Sven Poths, Karina Haebig, Karin Schaeferhoff, Birgitt Schoenfisch, Olaf Riess, Diethelm Wallwiener, Michael Bonin and Sara Brucker
    Citation: Orphanet Journal of Rare Diseases 2011 6:32
  4. Pemphigoids are rare diseases associated with IgG, IgE and IgA autoantibodies against collagen XVII/BP180. An entity of the pemphigoid group is the lamina lucida-type of linear IgA disease (IgA pemphigoid) cha...

    Authors: Kinga Csorba, Sabine Schmidt, Florina Florea, Norito Ishii, Takashi Hashimoto, Michael Hertl, Sarolta Kárpáti, Leena Bruckner-Tuderman, Wataru Nishie and Cassian Sitaru
    Citation: Orphanet Journal of Rare Diseases 2011 6:31
  5. Hydroxyurea (HU) is the first approved pharmacological treatment of sickle cell anemia (SCA). The objectives of this study were to develop population pharmacokinetic(PK)-pharmacodynamic(PD) models for HU in or...

    Authors: Ines Paule, Hind Sassi, Anoosha Habibi, Kim PD Pham, Dora Bachir, Frédéric Galactéros, Pascal Girard, Anne Hulin and Michel Tod
    Citation: Orphanet Journal of Rare Diseases 2011 6:30
  6. Thymic epithelial tumours (thymoma and carcinoma) are exceptionally rare in children. We describe a national multicentre series with a view to illustrating their clinical behaviour and the results of treatment.

    Authors: Elena Carretto, Alessandro Inserra, Andrea Ferrari, Massimo Conte, Andrea Di Cataldo, Roberta Migliorati, Giovanni Cecchetto and Gianni Bisogno
    Citation: Orphanet Journal of Rare Diseases 2011 6:28
  7. Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, ...

    Authors: Roseline Froissart, Monique Piraud, Alix Mollet Boudjemline, Christine Vianey-Saban, François Petit, Aurélie Hubert-Buron, Pascale Trioche Eberschweiler, Vincent Gajdos and Philippe Labrune
    Citation: Orphanet Journal of Rare Diseases 2011 6:27
  8. The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe (<0.5 G/l) or mild (between 0.5-1.5 G/l), which may also affect other organ systems such a...

    Authors: Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui and Christine Bellanné Chantelot
    Citation: Orphanet Journal of Rare Diseases 2011 6:26
  9. X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) v...

    Authors: Ginevra Zanni and Enrico S Bertini
    Citation: Orphanet Journal of Rare Diseases 2011 6:24
  10. Ataxia Telangiectasia (A-T) is a rare monogenetic neurodegenerative disease with pulmonary, nutritional, and dysphagic complications. Gastrostomy tube (GT) feedings are commonly recommended to manage these co-...

    Authors: Maureen A Lefton-Greif, Thomas O Crawford, Sharon McGrath-Morrow, Kathryn A Carson and Howard M Lederman
    Citation: Orphanet Journal of Rare Diseases 2011 6:23
  11. Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascu...

    Authors: Gonzalo A Wallis, Diane Debich-Spicer and Robert H Anderson
    Citation: Orphanet Journal of Rare Diseases 2011 6:22
  12. Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for ...

    Authors: Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz El-Amraoui, Dominique Weil, Bruno Delobel, Christophe Vincent, Hélène Dollfus…
    Citation: Orphanet Journal of Rare Diseases 2011 6:21
  13. Cathepsin K (CTSK) is a member of the papain-like cysteine protease family. Mutations in the CTSK gene cause a rare autosomal recessive bone disorder called pycnodysostosis (OMIM 265800). In order to follow the a...

    Authors: Yang Xue, Tao Cai, Songtao Shi, Weiguang Wang, Yanli Zhang, Tianqiu Mao and Xiaohong Duan
    Citation: Orphanet Journal of Rare Diseases 2011 6:20
  14. Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period. Despite best current management, PA is associated with severe neurological s...

    Authors: James E Davison, Nigel P Davies, Martin Wilson, Yu Sun, Anupam Chakrapani, Patrick J McKiernan, John H Walter, P Gissen and Andrew C Peet
    Citation: Orphanet Journal of Rare Diseases 2011 6:19
  15. Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was t...

    Authors: Tu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, Cédric Vialette, Salah Ferkal, Smaïl Hadj-Rabia, Christophe Glorion, Stanislas Lyonnet, Michel Zerah, Isabelle Kemlin, Diana Rodriguez, Sylvie Bastuji-Garin and Pierre Wolkenstein
    Citation: Orphanet Journal of Rare Diseases 2011 6:18
  16. Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their...

    Authors: Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, Gemma D'Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Cristina Tomaiuolo, Stefano Petrocchi and Adriano Angioni
    Citation: Orphanet Journal of Rare Diseases 2011 6:17
  17. Orphan drugs are often approved under exceptional circumstances, requiring submission of additional data on safety and effectiveness through registries. These registries are mainly focused on one drug only and...

    Authors: Carla EM Hollak, Johannes MFG Aerts, Ségolène Aymé and Jeremy Manuel
    Citation: Orphanet Journal of Rare Diseases 2011 6:16
  18. Hughes-Stovin Syndrome (HSS) is a very rare clinical disorder characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. Less than 40 published cases of HSS have been described in Eng...

    Authors: Umair Khalid and Taimur Saleem
    Citation: Orphanet Journal of Rare Diseases 2011 6:15
  19. Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pi...

    Authors: Tawhida Y Abdel Ghaffar, Ezzat S Elsobky and Solaf M Elsayed
    Citation: Orphanet Journal of Rare Diseases 2011 6:13
  20. terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental retardation, dysmorphisms, micro...

    Authors: Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, Monica Mascaretti and Giorgio Gimelli
    Citation: Orphanet Journal of Rare Diseases 2011 6:12
  21. Amyotrophic lateral sclerosis (ALS) is one of the most devastating neurodegenerative diseases. Neurotrophic factors have been widely tested to counteract neurodegenerative conditions, despite their unspecific ...

    Authors: Ana C Calvo, María Moreno-Igoa, Renzo Mancuso, Raquel Manzano, Sara Oliván, María J Muñoz, Clara Penas, Pilar Zaragoza, Xavier Navarro and Rosario Osta
    Citation: Orphanet Journal of Rare Diseases 2011 6:10
  22. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and ...

    Authors: Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard-Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid and Daniel Guerrier
    Citation: Orphanet Journal of Rare Diseases 2011 6:9
  23. It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. ...

    Authors: Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga and Faustina Lalatta
    Citation: Orphanet Journal of Rare Diseases 2011 6:7
  24. Authors: Chiara Redaelli, Rosalind A Coleman, Laura Moro, Amalia Sertedaki, Talia Kakourou, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo and Daniela Tavian
    Citation: Orphanet Journal of Rare Diseases 2011 6:6

    The original article was published in Orphanet Journal of Rare Diseases 2010 5:33

  25. Systemic sclerosis (scleroderma; SSc) is an orphan disease with the highest case-specific mortality of any connective-tissue disease. Excessive collagen deposit in affected tissues is a key for the disease's p...

    Authors: Rachel Riera, Luís EC Andrade, Alexandre WS Souza, Cristiane Kayser, Edison T Yanagita and Virgínia FM Trevisani
    Citation: Orphanet Journal of Rare Diseases 2011 6:5
  26. Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, w...

    Authors: Jean-Philippe Camdessanché, Véronique V Belzil, Guillemette Jousserand, Guy A Rouleau, Christelle Créac'h, Philippe Convers and Jean-Christophe Antoine
    Citation: Orphanet Journal of Rare Diseases 2011 6:4
  27. Ollier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (ECs), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetri...

    Authors: Twinkal C Pansuriya, Jan Oosting, Tibor Krenács, Antonie HM Taminiau, Suzan HM Verdegaal, Luca Sangiorgi, Raf Sciot, Pancras CW Hogendoorn, Karoly Szuhai and Judith VMG Bovée
    Citation: Orphanet Journal of Rare Diseases 2011 6:2
  28. Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as co...

    Authors: Amandine Georges, Jessica Bonneau, Dominique Bonnefont-Rousselot, Jacqueline Champigneulle, Jean P Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Eric Bruckert, Catherine Boileau, Alain Morali, Mathilde Varret, Lawrence P Aggerbeck and Marie E Samson-Bouma
    Citation: Orphanet Journal of Rare Diseases 2011 6:1
  29. Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the...

    Authors: Raymund AC Roos
    Citation: Orphanet Journal of Rare Diseases 2010 5:40
  30. Toxic epidermal necrolysis (TEN) and Stevens Johnson Syndrome (SJS) are severe adverse cutaneous drug reactions that predominantly involve the skin and mucous membranes. Both are rare, with TEN and SJS affecti...

    Authors: Thomas Harr and Lars E French
    Citation: Orphanet Journal of Rare Diseases 2010 5:39
  31. The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corr...

    Authors: Dan Lipsker
    Citation: Orphanet Journal of Rare Diseases 2010 5:38
  32. Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of canc...

    Authors: Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt and Isabelle Meyts
    Citation: Orphanet Journal of Rare Diseases 2010 5:37
  33. The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficul...

    Authors: Giuseppina Andreotti, Mario R Guarracino, Marco Cammisa, Antonella Correra and Maria Vittoria Cubellis
    Citation: Orphanet Journal of Rare Diseases 2010 5:36
  34. Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical C...

    Authors: Johann Böhm, Uluç Yiş, Ragıp Ortaç, Handan Çakmakçı, Semra Hız Kurul, Eray Dirik and Jocelyn Laporte
    Citation: Orphanet Journal of Rare Diseases 2010 5:35
  35. Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity. We have undertaken a study using microarray ge...

    Authors: Monica Arenas Hernandez, Reiner Schulz, Tracy Chaplin, Bryan D Young, David Perrett, Michael P Champion, Jan-Willem Taanman, Anthony Fensom and Anthony M Marinaki
    Citation: Orphanet Journal of Rare Diseases 2010 5:34
  36. Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplet...

    Authors: Chiara Redaelli, Rosalind A Coleman, Laura Moro, Catherine Dacou-Voutetakis, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo and Daniela Tavian
    Citation: Orphanet Journal of Rare Diseases 2010 5:33

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2011 6:6

  37. In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y+L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Al...

    Authors: Amelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C Gazzola, Zamir Kadija, Giuseppe Rodi, Francesca Mariani, Maria Lorena Ruzza, Maurizio Luisetti and Valeria Dall'Asta
    Citation: Orphanet Journal of Rare Diseases 2010 5:32
  38. A severe encephalitis that associates with auto-antibodies to the NR1 subunit of the NMDA receptor (NMDA-R) was recently reported. Patients' antibodies cause a decrease of the density of NMDA-R and synaptic me...

    Authors: Mario Manto, Josep Dalmau, Adrien Didelot, Véronique Rogemond and Jérôme Honnorat
    Citation: Orphanet Journal of Rare Diseases 2010 5:31
  39. Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence...

    Authors: Dominique P Germain
    Citation: Orphanet Journal of Rare Diseases 2010 5:30
  40. Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation....

    Authors: Cécile Julier and Marc Nicolino
    Citation: Orphanet Journal of Rare Diseases 2010 5:29