Cryopyrin-associated periodic syndrome (CAPS) is a rare disease. Knowledge on the quality of life (QoL) and the disease’s societal impact is limited. Canakinumab is used in increasing frequency for the treatme...
Authors: Catharina M. Mulders-Manders, Tim A. Kanters, Paul L. A. van Daele, Esther Hoppenreijs, G. Elizabeth Legger, Jan A. M. van Laar, Anna Simon and Leona Hakkaart-van Roijen
Citation:Orphanet Journal of Rare Diseases
2018
13:59
Pulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosider...
Authors: Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier…
Citation:Orphanet Journal of Rare Diseases
2018
13:60
Hereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system. Pure HSP is limited to lower limb spasticity and urinary voiding dysfunction. Complex HSP involve...
Authors: Øivind J. Kanavin and Krister W. Fjermestad
Citation:Orphanet Journal of Rare Diseases
2018
13:58
Lysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of the basilar artery (BA) has been frequently r...
Authors: Ole Hensel, Ilka Schneider, Mathias Wieprecht, Torsten Kraya and Stephan Zierz
Citation:Orphanet Journal of Rare Diseases
2018
13:57
Sanfilippo syndrome (mucopolysaccharidosis [MPS] III subtypes A, B, C, and D) is a rare autosomal recessive inherited metabolic disorder that causes progressive neurocognitive degeneration. This systematic lit...
Authors: Tamás Zelei, Kata Csetneki, Zoltán Vokó and Csaba Siffel
Citation:Orphanet Journal of Rare Diseases
2018
13:53
Epidermal necrolysis (EN) encompasses Stevens-Johnson syndrome (SJS, < 10% of the skin affected), Lyell syndrome (toxic epidermal necrolysis, TEN, with ≥30% of the skin affected) and an overlap syndrome (10 to...
Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and l...
Authors: Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette Beers, Jizhong Zou, Steven Titus, Elizabeth A. Ottinger, Juan J. Marugan, Xing Xie and Wei Zheng
Citation:Orphanet Journal of Rare Diseases
2018
13:54
Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the managemen...
Authors: Irene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, Beatriz San Millan, Susana Teijeira, Julian Fernandez-Martin, Felisa Martinez-Sanchez, Luis Jose Aldamiz-Echevarria, Monica Lopez-Rodriguez, Carmen Navarro and Saida Ortolano
Citation:Orphanet Journal of Rare Diseases
2018
13:52
Hereditary angioedema with C1 inhibitor deficiency is a disabling, potentially fatal condition characterized by recurrent episodes of swelling. Self-treatment is recommended, in order to reduce admissions to t...
Authors: Andrea Zanichelli, Giulia Maria Azin, Federico Cristina, Romualdo Vacchini and Teresa Caballero
Citation:Orphanet Journal of Rare Diseases
2018
13:51
Autoantibodies against the smaller isoform of glutamate decarboxylase (GAD65Ab) reflect autoimmune etiologies in Type 1 diabetes (T1D) and several neurological disorders, including Stiff Person Syndrome (SPS)....
Authors: Suvi Liimatainen, Jerome Honnorat, Sean J. Pittock, Andrew McKeon, Mario Manto, Jared R. Radtke and Christiane S. Hampe
Citation:Orphanet Journal of Rare Diseases
2018
13:55
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysos...
Authors: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell…
Citation:Orphanet Journal of Rare Diseases
2018
13:50
Strimvelis (autologous CD34+ cells transduced to express adenosine deaminase [ADA]) is the first ex vivo stem cell gene therapy approved by the European Medicines Agency (EMA), indicated as a single treatment ...
Authors: Heide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, Jessica Imrie, Bikramjit Chopra, Stefania Giannelli, Michela Gabaldo, Ambra Corti, Stefano Zancan, Alessandro Aiuti, Maria Pia Cicalese, Rohit Batta, Jonathan Appleby, Mario Davinelli and Pauline Ng
Citation:Orphanet Journal of Rare Diseases
2018
13:49
The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) childr...
Authors: Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li and Hongfang Ding
Citation:Orphanet Journal of Rare Diseases
2018
13:48
KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in K...
Authors: Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini and Daniele Ghezzi
Citation:Orphanet Journal of Rare Diseases
2018
13:45
Acitretin is the main retinoid used to treat severe inherited ichthyosis. Alternatives may be considered if it results ineffective or there are side-effects, or for women of childbearing age.
Hajdu-Cheney syndrome (HCS) (#OMIM 102500) is a rare, autosomal dominant condition that presents in early childhood. It is caused by mutations in the terminal exon of NOTCH2, which encodes the transmembrane NOTCH...
Authors: James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake and Melita D. Irving
Citation:Orphanet Journal of Rare Diseases
2018
13:47
The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that t...
Authors: Angus John Clarke and Ana Paula Abdala Sheikh
Citation:Orphanet Journal of Rare Diseases
2018
13:44
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which ...
Authors: Yi Cai, Hao Guo, Wenda Wang, Hanzhong Li, Hao Sun, Bing Shi and Yushi Zhang
Citation:Orphanet Journal of Rare Diseases
2018
13:43
Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the prese...
Authors: Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A. Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan and Matthias Griese
Citation:Orphanet Journal of Rare Diseases
2018
13:42
Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. At higher risk are smokers and those who have a family history of aortic aneurysms. In most affected famil...
Authors: Adel Shalata, Mohammad Mahroom, Dianna M. Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod…
Citation:Orphanet Journal of Rare Diseases
2018
13:41
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder mainly due to a deletion of chromosome 17p11.2 including PMP22 (PMP22 Del HNPP). The prevalence of HNPP is estimat...
Authors: Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim and Chang-Seok Ki
Citation:Orphanet Journal of Rare Diseases
2018
13:40
Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed a...
Authors: Anna Boye Kromann, Lilian Bomme Ousager, Inas Kamal Mohammad Ali, Nurcan Aydemir and Anette Bygum
Citation:Orphanet Journal of Rare Diseases
2018
13:39
Sports and exercise therapy becomes more and more integrated in the treatment plan of different diseases. Although the benefits of this therapy are of high quality evidence, e.g. in cardiovascular diseases, no...
Authors: Thomas Hilberg
Citation:Orphanet Journal of Rare Diseases
2018
13:38
Medical student training is largely focused on acquiring knowledge of diseases and their management, which may leave one with a naïve perception of what is achievable in practice, particularly in the field of ...
Authors: Mariam Al-Attar
Citation:Orphanet Journal of Rare Diseases
2018
13:37
Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell–expressed recomb...
Authors: Ari Zimran, Michael Wajnrajch, Betina Hernandez and Gregory M. Pastores
Citation:Orphanet Journal of Rare Diseases
2018
13:36
