Skip to main content

Articles

Page 39 of 81

  1. Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to establish a complete cytogenetic and molecular char...

    Authors: C. Salas-Labadía, S. Gómez-Carmona, R. Cruz-Alcívar, D. Martínez-Anaya, V. Del Castillo-Ruiz, C. Durán-McKinster, V. Ulloa-Avilés, E. Yokoyama-Rebollar, A. Ruiz-Herrera, P. Navarrete-Meneses, E. Lieberman-Hernández, A. González-Del Angel, D. Cervantes-Barragán, C. Villarroel-Cortés, A. Reyes-León, D. Suárez-Pérez…
    Citation: Orphanet Journal of Rare Diseases 2019 14:259
  2. The differentiation between Gaucher disease type 3 (GD3) and type 1 is challenging because pathognomonic neurologic symptoms may be subtle and develop at late stages. The ophthalmologist plays a crucial role i...

    Authors: Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, Karl-Eugen Mengel, Julia B. Hennermann, Irene Schmidtmann and Susanne Pitz
    Citation: Orphanet Journal of Rare Diseases 2019 14:257
  3. Systemic bevacizumab is a novel targeted anti-angiogenic therapy for high-output cardiac failure (HOCF) in hereditary hemorrhagic telangiectasia (HHT) but published data is limited. This survey-based study mea...

    Authors: Hanny Al-Samkari, Hasan A. Albitar, Scott E. Olitsky, Marianne S. Clancy and Vivek N. Iyer
    Citation: Orphanet Journal of Rare Diseases 2019 14:256
  4. Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe ...

    Authors: Alexandra Morrison, Esmee Oussoren, Tabea Friedel, Jordi Cruz and Nalan Yilmaz
    Citation: Orphanet Journal of Rare Diseases 2019 14:254
  5. Animal studies suggested that blocking the activation of the mammalian target of rapamycin (mTOR) pathway might be effective to treat cardiac hypertrophy in LEOPARD syndrome (LS) caused by PTPN11 mutations.

    Authors: Hao Cui, Lei Song, Changsheng Zhu, Ce Zhang, Bing Tang, Shengwei Wang, Guixin Wu, Yubao Zou, Xiaohong Huang, Rutai Hui, Shuiyun Wang and Jizheng Wang
    Citation: Orphanet Journal of Rare Diseases 2019 14:252
  6. Hereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized progressive cardiomyopathy with heterogenous clinical manifestations that lead to its misdiagnosis and poor prognosis. Th...

    Authors: Shan He, Zhuang Tian, Hongzhi Guan, Jian Li, Quan Fang and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2019 14:251
  7. Dystrophin-glycoprotein complex (DGC)-related muscular dystrophies may present similar clinical and pathological features as well as undetectable mutations thus being sometimes difficult to distinguish. We inv...

    Authors: Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang and Yun Yuan
    Citation: Orphanet Journal of Rare Diseases 2019 14:250
  8. The phenotypic spectrum of many rare disorders is much wider than previously considered. Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered ...

    Authors: Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg and Margreet A. E. M. Wagenmakers
    Citation: Orphanet Journal of Rare Diseases 2019 14:249
  9. Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression...

    Authors: Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner and Martina Huemer
    Citation: Orphanet Journal of Rare Diseases 2019 14:248
  10. Acquired or genetic abnormalities of the complement alternative pathway are the primary cause of C3glomerulopathy(C3G) but may occur in immune-complex-mediated membranoproliferative glomerulonephritis (IC-MPGN...

    Authors: Nóra Garam, Zoltán Prohászka, Ágnes Szilágyi, Christof Aigner, Alice Schmidt, Martina Gaggl, Gere Sunder-Plassmann, Dóra Bajcsi, Jürgen Brunner, Alexandra Dumfarth, Daniel Cejka, Stefan Flaschberger, Hana Flögelova, Ágnes Haris, Ágnes Hartmann, Andreas Heilos…
    Citation: Orphanet Journal of Rare Diseases 2019 14:247
  11. This study aims to test response inhibition in premanifest Huntington’s disease individuals (Pre-HD), in the context of a saccadic paradigm with working memory demands and fronto-executive load as a way to mea...

    Authors: Filipa Júlio, Gina Caetano, Cristina Januário and Miguel Castelo-Branco
    Citation: Orphanet Journal of Rare Diseases 2019 14:246
  12. Differentiation between pancreatic cancer (PC) and focal form of autoimmune pancreatitis (AIP) is very challenging, with similar clinical presentations, laboratory results and morphologic imagings of US, CT, E...

    Authors: Gaopeng Li, Ting Liu, Jian Zheng, Wenqin Kang, Jun Xu, Zefeng Gao and Jinfeng Ma
    Citation: Orphanet Journal of Rare Diseases 2019 14:245
  13. Wilson’s disease is an inherited autosomal recessive multi-systemic disorder characterized by reduced excretion and consequently excessive accumulation of copper in different organs, such as the heart.

    Authors: Kun Zhang, Ulrike Reuner, Marie Weidauer, Uwe Speiser, Karim Ibrahim, Marian Christoph, Frank R. Heinzel, Burkert Pieske, Felix M. Heidrich and Silvio Quick
    Citation: Orphanet Journal of Rare Diseases 2019 14:244
  14. Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy p...

    Authors: Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers III and Alan L. Shields
    Citation: Orphanet Journal of Rare Diseases 2019 14:243
  15. Testicular adrenal rests tumor (TART) is a rare kind of benign tumor in the testis. It usually occurred secondary to congenital adrenal hyperplasia (CAH), a hormonal disorder caused by hydroxylase deficiency. ...

    Authors: Li Ma, Yu Xia, Linlin Wang, Ruifeng Liu, Xuepei Huang, Tiantian Ye, Li Zhang, Qingli Zhu, Jianchu Li and Yuxin Jiang
    Citation: Orphanet Journal of Rare Diseases 2019 14:242
  16. Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, i...

    Authors: Mohua Chakraborty Choudhury and Gayatri Saberwal
    Citation: Orphanet Journal of Rare Diseases 2019 14:241
  17. Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of...

    Authors: Shanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, Caroline Lindemans, Marianna Bugiani and Nicole I. Wolf
    Citation: Orphanet Journal of Rare Diseases 2019 14:240
  18. The objective of this study is to describe variations in the healthcare resource utilization (HRU) among individuals with Angelman syndrome (AS) over the first 12 years of life. Data for this study were drawn ...

    Authors: Nasreen Khan, Raquel Cabo, Wen-Hann Tan, Regina Tayag and Lynne M. Bird
    Citation: Orphanet Journal of Rare Diseases 2019 14:239
  19. In the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes of death are available since those impr...

    Authors: Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud and Maithé Tauber
    Citation: Orphanet Journal of Rare Diseases 2019 14:238
  20. Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by the absence of enteric ganglia in the distal part of the gut. RET is the major causative gene and contains > 80% of all known disea...

    Authors: Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai and Long Li
    Citation: Orphanet Journal of Rare Diseases 2019 14:237
  21. Complex I (CI or NADH:ubiquinone oxidoreductase) deficiency is the most frequent cause of mitochondrial respiratory chain defect. Successful attempts to rescue CI function by introducing an exogenous NADH dehy...

    Authors: Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch and Manuel Schiff
    Citation: Orphanet Journal of Rare Diseases 2019 14:236
  22. Von Hippel-Lindau (VHL) disease is a multi-systemic hereditary disease associated with several benign and malignant tumor entities, including clear cell renal cell carcinoma (ccRCC). Since ccRCCs grow slowly, ...

    Authors: Patrick Schuhmacher, Emily Kim, Felix Hahn, Peggy Sekula, Cordula Annette Jilg, Christian Leiber, Hartmut P. Neumann, Wolfgang Schultze-Seemann, Gerd Walz and Stefan Zschiedrich
    Citation: Orphanet Journal of Rare Diseases 2019 14:235
  23. Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents ske...

    Authors: Wei Zhang, Bing Wen, Jun Lu, Yawen Zhao, Daojun Hong, Zhe Zhao, Cheng Zhang, Yuebei Luo, Xueliang Qi, Yingshuang Zhang, Xueqin Song, Yuying Zhao, Chongbo Zhao, Jing Hu, Huan Yang, Zhaoxia Wang…
    Citation: Orphanet Journal of Rare Diseases 2019 14:234
  24. It is estimated that at present there are over 10 million rare disease patients in China. Recently an increased focus from policy perspective has been placed on rare diseases management. Improved disease defin...

    Authors: Xiaoshu Cai, Hui Yang, Georgi Z. Genchev, Hui Lu and Guangjun Yu
    Citation: Orphanet Journal of Rare Diseases 2019 14:233
  25. Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS ...

    Authors: Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird and Virginia Kimonis
    Citation: Orphanet Journal of Rare Diseases 2019 14:232
  26. PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first y...

    Authors: Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal and Ute Spiekerkoetter
    Citation: Orphanet Journal of Rare Diseases 2019 14:231
  27. A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients. The aim of the present study i...

    Authors: Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Andrea Malfettone, José Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Marta Pérez-Quintana and Jordi Pérez-López
    Citation: Orphanet Journal of Rare Diseases 2019 14:230
  28. Pneumothorax may recur during pulmonary Langerhans cell histiocytosis (PLCH) patients’ follow-up and its management is not standardised. The factors associated with pneumothorax recurrence are unknown.

    Authors: Pierre Le Guen, Sylvie Chevret, Emmanuelle Bugnet, Constance de Margerie-Mellon, Gwenaël Lorillon, Agathe Seguin-Givelet, Fanélie Jouenne, Dominique Gossot, Robert Vassallo and Abdellatif Tazi
    Citation: Orphanet Journal of Rare Diseases 2019 14:229
  29. Niemann-Pick Disease Type C (NPC) is an inherited, often fatal neurovisceral lysosomal storage disease characterized by cholesterol accumulation in every cell with few known treatments. Defects in cholesterol ...

    Authors: Caroline Hastings, Camilo Vieira, Benny Liu, Cyrus Bascon, Claire Gao, Raymond Y. Wang, Alicia Casey and Sharon Hrynkow
    Citation: Orphanet Journal of Rare Diseases 2019 14:228
  30. As human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a rare chronic neurological disease, large scale studies to collect continuous clinical data have ...

    Authors: Shuntaro Tsutsumi, Tomoo Sato, Naoko Yagishita, Junji Yamauchi, Natsumi Araya, Daisuke Hasegawa, Misako Nagasaka, Ariella L. G. Coler-Reilly, Eisuke Inoue, Ayako Takata and Yoshihisa Yamano
    Citation: Orphanet Journal of Rare Diseases 2019 14:227
  31. Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review ...

    Authors: Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom and Gert J. Geurtsen
    Citation: Orphanet Journal of Rare Diseases 2019 14:226
  32. The number of available therapies for rare diseases remains low, as fewer than 6% of rare diseases have an approved treatment option. The International Rare Diseases Research Consortium (IRDiRC) set up the mul...

    Authors: Noel T Southall, Madhusudan Natarajan, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Benoît Deprez, Tim Guilliams, Lawrence Hunter, Carin MA Rademaker, Virginie Hivert and Diego Ardigò
    Citation: Orphanet Journal of Rare Diseases 2019 14:225
  33. Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and ...

    Authors: Keqiang Liu, Wenshuai Xu, Xinlun Tian, Meng Xiao, Xinyue Zhao, Qianli Zhang, Tao Qu, Jiaxing Song, Yaping Liu, Kai-Feng Xu and Xue Zhang
    Citation: Orphanet Journal of Rare Diseases 2019 14:223
  34. Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The diagnosis of TMAU is challenging because this disorder is situated...

    Authors: Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay and Laurence Le Moyec
    Citation: Orphanet Journal of Rare Diseases 2019 14:222
  35. Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 ...

    Authors: Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong and Haibo Mei
    Citation: Orphanet Journal of Rare Diseases 2019 14:221
  36. A wide range of rare diseases can have fiscal impacts on government finances that extend beyond expected healthcare costs. Conditions preventing people from achieving national lifetime work averages will influ...

    Authors: Mark P. Connolly, Saswat Panda, Julien Patris and Bouke P. C. Hazenberg
    Citation: Orphanet Journal of Rare Diseases 2019 14:220
  37. Osteogenesis imperfecta (OI) is a rare disease leading to hereditary bone fragility. Nearly 90% of cases are caused by mutations in the collagen genes COL1A1/A2 (classical OI) leading to multiple fractures, scoli...

    Authors: Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau and Oliver Semler
    Citation: Orphanet Journal of Rare Diseases 2019 14:219
  38. Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is ...

    Authors: Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini and Alessandro Lambiase
    Citation: Orphanet Journal of Rare Diseases 2019 14:218
  39. Men with the hereditary peroxisomal disorder X-linked adrenoleukodystrophy (ALD) are at risk of developing inflammatory demyelinating lesions in the brain. In the absence of inflammatory (post-contrast enhanci...

    Authors: Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom and Gert J. Geurtsen
    Citation: Orphanet Journal of Rare Diseases 2019 14:217
  40. Prader-Willi syndrome (PWS) is a rare complex genetic disorder and is characterized by short stature, muscular hypotonia, abnormal body composition, psychomotor retardation, and hyperphagia. Recombinant human ...

    Authors: Aram Yang, Jin-Ho Choi, Young Bae Sohn, Yunae Eom, Jiyoon Lee, Han-Wook Yoo and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2019 14:216
  41. Kaposiform lymphangiomatosis (KLA) has recently been distinguished as a novel subtype of generalized lymphatic anomaly (GLA) with foci of spindle endothelial cells. All cases of KLA involve multiple organs and...

    Authors: Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama and Toshiyuki Fukao
    Citation: Orphanet Journal of Rare Diseases 2019 14:215
  42. The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 (

    Authors: Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier and Marc Ferré
    Citation: Orphanet Journal of Rare Diseases 2019 14:214
  43. Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the c...

    Authors: Aline Azabdaftari, Markus van der Giet, Mirjam Schuchardt, Julia B. Hennermann, Ursula Plöckinger and Uwe Querfeld
    Citation: Orphanet Journal of Rare Diseases 2019 14:213
  44. Gaucher disease is an inherited lysosomal storage disorder of which there are three subtypes. Type 1 disease has no neurological involvement and is treatable with enzyme replacement therapy. Type 2 disease res...

    Authors: Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes and Elin Haf Davies
    Citation: Orphanet Journal of Rare Diseases 2019 14:212
  45. Haemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost an...

    Authors: Andreia Café, Manuela Carvalho, Miguel Crato, Miguel Faria, Paula Kjollerstrom, Cristina Oliveira, Patrícia R. Pinto, Ramón Salvado, Alexandra Aires dos Santos and Catarina Silva
    Citation: Orphanet Journal of Rare Diseases 2019 14:211
  46. Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular dysplasia resulting in visceral arteriovenous malformations and smaller mucocutaneous telangiectasia. Most patients experience recurrent nosebleed...

    Authors: C. L. Shovlin, C. M. Millar, F. Droege, A. Kjeldsen, G. Manfredi, P. Suppressa, S. Ugolini, N. Coote, A. D. Fialla, U. Geisthoff, G. M. Lenato, H. J. Mager, F. Pagella, M. C. Post, C. Sabbà, U. Sure…
    Citation: Orphanet Journal of Rare Diseases 2019 14:210
  47. Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigme...

    Authors: Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer and Arndt Rolfs
    Citation: Orphanet Journal of Rare Diseases 2019 14:209