Skip to main content

Articles

Page 44 of 81

  1. Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we ...

    Authors: Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang and Ni-Chung Lee
    Citation: Orphanet Journal of Rare Diseases 2019 14:6
  2. MicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate the effect of miRNA-206 and its targets, fibronecti...

    Authors: Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar and Akhmad Makhmudi
    Citation: Orphanet Journal of Rare Diseases 2019 14:5
  3. Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement...

    Authors: Wladimir Mauhin, Olivier Lidove and Olivier Benveniste
    Citation: Orphanet Journal of Rare Diseases 2019 14:4
  4. Dysregulation of the inositol cycle is implicated in a wide variety of human diseases, including developmental defects and neurological diseases. A homozygous frameshift mutation in IMPA1, coding for the enzyme i...

    Authors: Christopher P. Walker, Andre L. S. Pessoa, Thalita Figueiredo, Megan Rafferty, Uirá S. Melo, Paulo R. Nóbrega, Nicholas Murphy, Fernando Kok, Mayana Zatz, Silvana Santos and Raymond Y. Cho
    Citation: Orphanet Journal of Rare Diseases 2019 14:3
  5. In the treatment of phenylketonuria (PKU), there was disparity between UK dietitians regarding interpretation of how different foods should be allocated in a low phenylalanine diet (allowed without measurement...

    Authors: Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop…
    Citation: Orphanet Journal of Rare Diseases 2019 14:2
  6. Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is s...

    Authors: Richard M. Pauli
    Citation: Orphanet Journal of Rare Diseases 2019 14:1
  7. Patients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI is also characterized by numerous co-morbidities, ...

    Authors: Heidi Arponen, Adel Bachour, Leif Bäck, Helena Valta, Antti Mäkitie, Janna Waltimo-Sirén and Outi Mäkitie
    Citation: Orphanet Journal of Rare Diseases 2018 13:231
  8. Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy that leads to unfavourable neurological outcome if not treated adequately. In patients with severe diffuse CHI i...

    Authors: Alena Welters, Thomas Meissner, Jürgen Grulich-Henn, Elke Fröhlich-Reiterer, Katharina Warncke, Klaus Mohnike, Oliver Blankenstein, Ulrike Menzel, Nicolin Datz, Esther Bollow and Reinhard W. Holl
    Citation: Orphanet Journal of Rare Diseases 2018 13:230
  9. To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes.

    Authors: Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu and Jie Ding
    Citation: Orphanet Journal of Rare Diseases 2018 13:229
  10. Rare diseases are often not fully understood and efforts put in investigating it from patient perspective are usually met with challenges. We performed a systematic literature review (SLR) for the last 20 year...

    Authors: Naomi Knoble, Gabrielle Nayroles, Cherry Cheng and Benoit Arnould
    Citation: Orphanet Journal of Rare Diseases 2018 13:228
  11. The Differences of Sex Development network (DSDnet) aims to establish interactive relationships between clinicians, scientists, support groups and people with a difference of sex development (DSD) to improve t...

    Authors: R. Bertalan, A. Lucas-Herald, Z. Kolesinska, M. Berra, Martine Cools, A. Balsamo and O. Hiort
    Citation: Orphanet Journal of Rare Diseases 2018 13:227
  12. Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomali...

    Authors: Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin and Jeng-Daw Tsai
    Citation: Orphanet Journal of Rare Diseases 2018 13:226
  13. Emerging evidence suggests that several factors can impact disease progression in transthyretin amyloid polyneuropathy (ATTR-PN). The present analysis used longitudinal data from Val30Met patients participatin...

    Authors: Leslie Amass, Huihua Li, Balarama K. Gundapaneni, Jeffrey H. Schwartz and Denis J. Keohane
    Citation: Orphanet Journal of Rare Diseases 2018 13:225
  14. Cystic fibrosis (CF) is a rare disease most commonly seen in Caucasians. Only a few Chinese CF patients have been described in literature, taking into account the large population of China. In this systematic ...

    Authors: Xiaobei Guo, Keqiang Liu, Yaping Liu, Yusen Situ, Xinlun Tian, Kai-Feng Xu and Xue Zhang
    Citation: Orphanet Journal of Rare Diseases 2018 13:224
  15. Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder with a wide variety of clinical manifestations due to the presence of multiple arteriovenous malformations in various tiss...

    Authors: Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring and Anders Green
    Citation: Orphanet Journal of Rare Diseases 2018 13:223
  16. Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterized by multiple lung cysts leading to respiratory insufficiency and frequent pneumothorax (PT). Air travel (AT) could increase the ...

    Authors: Cynthia Gonano, Jérôme Pasquier, Cécile Daccord, Simon R. Johnson, Sergio Harari, Violette Leclerc, Lucy Falconer, Eleonora Miano, Jean-François Cordier, Vincent Cottin and Romain Lazor
    Citation: Orphanet Journal of Rare Diseases 2018 13:222
  17. Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive ...

    Authors: Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska and Maciej Robert Krawczynski
    Citation: Orphanet Journal of Rare Diseases 2018 13:221
  18. Pulmonary Arterial Hypertension (PAH) is a chronic rare disease that can lead to serious cardiovascular problems and death. Additional treatments that increase effectiveness, that are safe and with a convenien...

    Authors: Alberto Jiménez, Arantza Ais, Amélie Beaudet and Alicia Gil
    Citation: Orphanet Journal of Rare Diseases 2018 13:220
  19. The ‘classic’ organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied b...

    Authors: Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew and Nicola Longo
    Citation: Orphanet Journal of Rare Diseases 2018 13:219
  20. Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the d...

    Authors: Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi and Christophe Béroud
    Citation: Orphanet Journal of Rare Diseases 2018 13:218
  21. To study the present treatment situation and investigate a better orthodontic approach for patients with cleidocranial dysplasia (CCD) through systematically reviewing the published cases and to conclude the s...

    Authors: Yanfei Zhu, Yin Zou, Qian Yu, Huijun Sun, Sixuan Mou, Shuhua Xu and Min Zhu
    Citation: Orphanet Journal of Rare Diseases 2018 13:217
  22. Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent unc...

    Authors: Jason L. Jia, Shiyi Chen, Vishalini Sivarajah, Derek Stephens and Miguel A. Cortez
    Citation: Orphanet Journal of Rare Diseases 2018 13:216
  23. Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, h...

    Authors: Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2018 13:215
  24. Evaluation of evidence for efficacy of orphan medicinal products (OMPs) for rare malignancies may be hampered by the use of tumor measurements instead of clinical endpoints. This may cause efficacy data to not...

    Authors: Yvonne Schuller, Marieke Biegstraaten, Carla E. M. Hollak, Heinz-Josef Klümpen, Christine C. Gispen-de Wied and Violeta Stoyanova-Beninska
    Citation: Orphanet Journal of Rare Diseases 2018 13:214
  25. Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis. NS patients are prone to bacterial infections, but the unders...

    Authors: Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi and Annamari Ranki
    Citation: Orphanet Journal of Rare Diseases 2018 13:213
  26. Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.

    Authors: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau…
    Citation: Orphanet Journal of Rare Diseases 2018 13:212
  27. Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidl...

    Authors: Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime and Hanns Lochmüller
    Citation: Orphanet Journal of Rare Diseases 2018 13:211
  28. Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability i...

    Authors: Bruce Cohen, Cristy Balcells, Brian Hotchkiss, Kavita Aggarwal and Amel Karaa
    Citation: Orphanet Journal of Rare Diseases 2018 13:210
  29. Carpal tunnel syndrome (CTS) is a common complication of the mucopolysaccharidoses. In severe or attenuated mucopolysaccharidoses patients, clinical symptoms of CTS usually appear at a late stage of median ner...

    Authors: Kim Maincent, Bénédicte Héron, Thierry Billette de Villemeur and Michèle Mayer
    Citation: Orphanet Journal of Rare Diseases 2018 13:209
  30. There is now an international partnership to establish global programs for patients with rare and undiagnosed diseases, involving interdisciplinary expert panels and phenotype-driven genetic analyses utilizing...

    Authors: Takeya Adachi, Noriaki Imanishi, Yasushi Ogawa, Yoshihiko Furusawa, Yoshihiko Izumida, Yoko Izumi and Makoto Suematsu
    Citation: Orphanet Journal of Rare Diseases 2018 13:208
  31. Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. The impact of CHH on gynecologi...

    Authors: Elina Holopainen, Svetlana Vakkilainen and Outi Mäkitie
    Citation: Orphanet Journal of Rare Diseases 2018 13:207
  32. To assess uncertainty in regulatory decision-making for orphan medicinal products (OMP), a summary of the current basis for approval is required; a systematic grouping of medical conditions may be useful in su...

    Authors: Caridad Pontes, Juan Manuel Fontanet, Roser Vives, Aranzazu Sancho, Mònica Gómez-Valent, José Ríos, Rosa Morros, Jorge Martinalbo, Martin Posch, Armin Koch, Kit Roes, Katrien Oude Rengerink, Josep Torrent-Farnell and Ferran Torres
    Citation: Orphanet Journal of Rare Diseases 2018 13:206
  33. Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinat...

    Authors: Francesca Marini, Francesca Giusti and Maria Luisa Brandi
    Citation: Orphanet Journal of Rare Diseases 2018 13:205
  34. Lymphangioleiomyomatosis is a rare disease caused by unregulated activation of mammalian target of rapamycin (mTOR) signalling pathway. Sirolimus showed efficacy in a phase 3 trial of patients with lymphangiol...

    Authors: Hee-Young Yoon, Jung Jin Hwang, Dong Soon Kim and Jin Woo Song
    Citation: Orphanet Journal of Rare Diseases 2018 13:204
  35. Being diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is characterized by heterogeneous course and expression, so le...

    Authors: José A. E. Custers, Paul de Laat, Saskia Koene, Jan Smeitink, Mirian C. H. Janssen and Christianne Verhaak
    Citation: Orphanet Journal of Rare Diseases 2018 13:203
  36. Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. The burden o...

    Authors: Irina Odnoletkova, Gerhard Kindle, Isabella Quinti, Bodo Grimbacher, Viviane Knerr, Benjamin Gathmann, Stephan Ehl, Nizar Mahlaoui, Philippe Van Wilder, Kris Bogaerts and Esther de Vries
    Citation: Orphanet Journal of Rare Diseases 2018 13:201
  37. The ASTERIX project developed a number of novel methods suited to study small populations. The objective of this exercise was to evaluate the applicability and added value of novel methods to improve drug deve...

    Authors: Marian Mitroiu, Katrien Oude Rengerink, Caridad Pontes, Aranzazu Sancho, Roser Vives, Stella Pesiou, Juan Manuel Fontanet, Ferran Torres, Stavros Nikolakopoulos, Konstantinos Pateras, Gerd Rosenkranz, Martin Posch, Susanne Urach, Robin Ristl, Armin Koch, Spineli Loukia…
    Citation: Orphanet Journal of Rare Diseases 2018 13:200
  38. Patient information in rare disease registries is generally collected from numerous data sources, necessitating the data to be federated. In addition, data for research purposes must be de-identified. Transfor...

    Authors: Meriem Maaroufi, Paul Landais, Claude Messiaen, Marie-Christine Jaulent and Rémy Choquet
    Citation: Orphanet Journal of Rare Diseases 2018 13:199
  39. Patients with hemophilia and inhibitors generally face greater disease burden compared to patients without inhibitors. While raising awareness of relative burden may improve the standard of care for patients w...

    Authors: Abiola O. Oladapo, Mei Lu, Shaun Walsh, Jamie O’Hara and Teresa L. Kauf
    Citation: Orphanet Journal of Rare Diseases 2018 13:198
  40. We now live in a time of unprecedented opportunities to turn scientific discoveries into better treatments for the estimated 30 million people in the US living with rare diseases. Despite these scientific adva...

    Authors: Petra Kaufmann, Anne R. Pariser and Christopher Austin
    Citation: Orphanet Journal of Rare Diseases 2018 13:196
  41. Orphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence of paediatric patient populations. Consequently, clinical trials for o...

    Authors: Simon Day, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Ralf-Dieter Hilgers, Ilan Irony, Kristina Larsson, Kit CB Roes and Nigel Stallard
    Citation: Orphanet Journal of Rare Diseases 2018 13:195
  42. Funding of orphan medicinal products (OMPs) is an increasing challenge in the European Union (EU).

    Authors: Márta Szegedi, Tamás Zelei, Francis Arickx, Anna Bucsics, Emanuelle Cohn-Zanchetta, Jurij Fürst, Maria Kamusheva, Pawel Kawalec, Guenka Petrova, Juraj Slaby, Ewa Stawowczyk, Milan Vocelka, Ingrid Zechmeister-Koss, Zoltán Kaló and Mária Judit Molnár
    Citation: Orphanet Journal of Rare Diseases 2018 13:184
  43. High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneurop...

    Authors: Tim W. Rattay, Jennifer Just, Benjamin Röben, Holger Hengel, Rebecca Schüle, Matthis Synofzik, Anne S. Söhn, Natalie Winter, Nele Dammeier, Ludger Schöls and Alexander Grimm
    Citation: Orphanet Journal of Rare Diseases 2018 13:194
  44. Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is caused by mutations within either the KRT5 or KRT14 gene, phenotypically resulting in blistering and wounding of the skin and mucous membranes aft...

    Authors: Michael Ablinger, Thomas K. Felder, Monika Wimmer, Roland Zauner, Peter Hofbauer, Thomas Lettner, Martin Wolkersdorfer, Florian B. Lagler, Anja Diem, Johann W. Bauer and Verena Wally
    Citation: Orphanet Journal of Rare Diseases 2018 13:193
  45. People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance. Responders to BH4 may experience a r...

    Authors: Kristen D Brantley, Teresa D Douglas and Rani H Singh
    Citation: Orphanet Journal of Rare Diseases 2018 13:192
  46. Extensive and complex vascular malformations often cause chronic pain and severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy, are rarely curative, underscoring the great...

    Authors: Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula and Laurence M. Boon
    Citation: Orphanet Journal of Rare Diseases 2018 13:191
  47. Oral cholic acid (CA) replacement has been shown to be an effective therapy in children with primary bile acid synthesis defects, which are rare and severe genetic liver diseases. To date there has been no rep...

    Authors: Emmanuel Gonzales, Lorenza Matarazzo, Stéphanie Franchi-Abella, Alain Dabadie, Joseph Cohen, Dalila Habes, Sophie Hillaire, Catherine Guettier, Anne-Marie Taburet, Anne Myara and Emmanuel Jacquemin
    Citation: Orphanet Journal of Rare Diseases 2018 13:190