Invasive meningococcal disease in three siblings with hereditary deficiency of the 8th component of complement: evidence for the importance of an early diagnosis
We report functional and immuno... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 17, 2016 Category: Internal Medicine Authors: Rosa Maria Dellepiane, Laura Dell’Era, Paola Pavesi, Paolo Macor, Mara Giordano, Luca De Maso, Maria Cristina Pietrogrande and Massimo Cugno Source Type: research

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a complex locus expressing multiple transcripts by alter... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 14, 2016 Category: Internal Medicine Authors: Valerie Maduro, Barbara N. Pusey, Praveen F. Cherukuri, Paul Atkins, Christèle du Souich, Rosemarie Rupps, Marjolaine Limbos, David R. Adams, Samarth S. Bhatt, Patrice Eydoux, Amanda E. Links, Anna Lehman, May C. Malicdan, Christopher E. Mason, Marie Mor Source Type: research

Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act
Rare rheumatologic diseases are a heterogeneous group of conditions associated with high morbidity. As a whole group, rare rheumatologic diseases afflict millions of people demanding for effective therapies. T... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 12, 2016 Category: Internal Medicine Authors: Evangelos Minos, Robert J. Barry, Sue Southworth, Annie Folkard, Philip I. Murray, Jay S. Duker, Pearse A. Keane, Alastair K. Denniston, Thomas Lutz, Anette Lampert, Georg F. Hoffmann and Markus Ries Source Type: research

Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment
Birdshot chorioretinopathy (BCR) is a rare form of chronic, bilateral, posterior uveitis with a distinctive clinical phenotype, and a strong association with HLA-A29. It predominantly affects people in middle ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 12, 2016 Category: Internal Medicine Authors: Evangelos Minos, Robert J. Barry, Sue Southworth, Annie Folkard, Philip I. Murray, Jay S. Duker, Pearse A. Keane and Alastair K. Denniston Source Type: research

Impact of orphan drugs on Latvian budget
Number of orphan medicinal products on the market and number of rare disease patients, taking these usually expensive products, are increasing. As a result, budget impact of orphan drugs is growing. This facto... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 11, 2016 Category: Internal Medicine Authors: Konstantins Logviss, Dainis Krievins and Santa Purvina Source Type: research

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 4, 2016 Category: Internal Medicine Authors: Malte Lenders, Frank Weidemann, Christine Kurschat, Sima Canaan-Kühl, Thomas Duning, Jörg Stypmann, Boris Schmitz, Stefanie Reiermann, Johannes Krämer, Daniela Blaschke, Christoph Wanner, Stefan-Martin Brand and Eva Brand Source Type: research

Disease burden of spinal muscular atrophy in Germany
This study aimed at analyzing the economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany. SMA is a so far non-curable neuromuscula... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 4, 2016 Category: Internal Medicine Authors: Constanze Klug, Olivia Schreiber-Katz, Simone Thiele, Elisabeth Schorling, Janet Zowe, Peter Reilich, Maggie C. Walter and Klaus H. Nagels Source Type: research

Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation
Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identifie... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 4, 2016 Category: Internal Medicine Authors: Jun Ju, Shinichi Hirose, Xiu-Yu Shi, Atsushi Ishii, Lin-Yan Hu and Li-Ping Zou Source Type: research

High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with different nutritional phases from suckling deficit with failure to thrive to early onset of obesity. Hyperghrelinemia has been des... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 4, 2016 Category: Internal Medicine Authors: Veronique Beauloye, Gwenaelle Diene, Renske Kuppens, Francis Zech, Coralie Winandy, Catherine Molinas, Sandy Faye, Isabelle Kieffer, Dominique Beckers, Ricard Nergårdh, Berthold Hauffa, Christine Derycke, Patrick Delhanty, Anita Hokken-Koelega and Maith Source Type: research

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Cerebellar atrophy and developmental delay are commonly associated features in large numbers of genetic diseases that frequently also include epilepsy. These defects are highly heterogeneous on both the geneti... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 4, 2016 Category: Internal Medicine Authors: Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bole-Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Nathalie Boddae Source Type: research

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Enzyme replacement therapy (ERT) with laronidase (recombinant human α-L-iduronidase, Aldurazyme®) is indicated for non-neurological signs and symptoms of mucopolysaccharidosis type I (MPS I). The approved laro... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2016 Category: Internal Medicine Authors: Dafne Dain Gandelman Horovitz, Angelina X. Acosta, Roberto Giugliani, Anna Hlavatá, Katarína Hlavatá, Michel C. Tchan, Anneliese Lopes Barth, Laercio Cardoso, Emília Katiane Embiruçu de Araújo Leão, Ana Carolina Esposito, Sandra Obikawa Kyosen, Car Source Type: research

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2016 Category: Internal Medicine Authors: Sylvie Picker-Minh, Cyril Mignot, Diane Doummar, Mais Hashem, Eissa Faqeih, Patrice Josset, Béatrice Dubern, Fowzan S. Alkuraya, Nadine Kraemer and Angela M. Kaindl Source Type: research

Rethinking fatigue in Gaucher disease
Gaucher disease (GD) is a rare lysosomal storage disease caused by deficiency in the enzyme beta-glucocerebrosidase. Along with visceral, hematologic, and bone manifestations, patients may experience chronic f... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2016 Category: Internal Medicine Authors: Y. Chen Zion, E. Pappadopulos, M. Wajnrajch and H. Rosenbaum Source Type: research

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders
Less than 50 patients with FPD/AML (OMIM 601309) have been reported as of today and there may an underestimation. The purpose of this study was to describe the natural history, the haematological features and ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 26, 2016 Category: Internal Medicine Authors: Veronique Latger-Cannard, Christophe Philippe, Alexandre Bouquet, Veronique Baccini, Marie-Christine Alessi, Annick Ankri, Anne Bauters, Sophie Bayart, Pascale Cornillet-Lefebvre, Sylvie Daliphard, Marie-Joelle Mozziconacci, Aline Renneville, Paola Baller Source Type: research

Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis
Mucopolysaccharidosis type II (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to skeletal abnormalities as well as glycosaminoglycans (GAG) accumulation at different l... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 26, 2016 Category: Internal Medicine Authors: M. Rutten, P. Ciet, R. van den Biggelaar, E. Oussoren, J. G. Langendonk, A. T. van der Ploeg and M. Langeveld Source Type: research

MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis
KL-6, a human MUC1 mucin, is a sensitive biomarker for interstitial lung diseases including pulmonary alveolar proteinosis (PAP). A correlation between MUC1 gene single nucleotide polymorphism (SNP) rs4072037 ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 23, 2016 Category: Internal Medicine Authors: Francesco Bonella, Xiaoping Long, Shinichiro Ohshimo, Yasushi Horimasu, Matthias Griese, Josune Guzman, Nobuoki Kohno and Ulrich Costabel Source Type: research

Cystinosis: a review
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 22, 2016 Category: Internal Medicine Authors: Mohamed A. Elmonem, Koenraad R. Veys, Neveen A. Soliman, Maria van Dyck, Lambertus P. van den Heuvel and Elena Levtchenko Source Type: research

Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia
Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias. Disease complications may result in premature death. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 22, 2016 Category: Internal Medicine Authors: E. M. de Gussem, C. P. Edwards, A. E. Hosman, C. J. J. Westermann, R. J. Snijder, M. E. Faughnan and J. J. Mager Source Type: research

Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print
The role of physical trauma in the onset of symptoms in Ehlers-Danlos syndrome (EDS) has never been characterized. We sought to search and describe brain lesions EDS patients also having personal history of ph... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 22, 2016 Category: Internal Medicine Authors: Claude Hamonet, Daniel Frédy, Jérémie H. Lefèvre, Sacha Bourgeois-Gironde and Jean-David Zeitoun Source Type: research

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
Fructose-1,6-bisphosphatase deficiency is a rare inborn error of metabolism affecting gluconeogenesis with only sporadic reports on its molecular genetic basis. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 21, 2016 Category: Internal Medicine Authors: René Santer, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C. Muntau and Beat Steinmann Source Type: research

Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study
Registration of trigger factors, prodromal symptoms, swelling localization, therapeutic behavior and gender-specific differences of the largest cohort of patients with hereditary angioedema due to C1-Inhibitor... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 21, 2016 Category: Internal Medicine Authors: Urs C. Steiner, Christina Weber-Chrysochoou, Arthur Helbling, Kathrin Scherer, Peter Schmid Grendelmeier and Walter A. Wuillemin Source Type: research

Assessing the feasibility of a web-based registry for multiple orphan lung diseases: the Australasian Registry Network for Orphan Lung Disease (ARNOLD) experience
We investigated the feasibility of using an online registry to provide prevalence data for multiple orphan lung diseases in Australia and New Zealand. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2016 Category: Internal Medicine Authors: K. Casamento, A. Laverty, M. Wilsher, J. Twiss, E. Gabbay, I. Glaspole and A. Jaffe Source Type: research

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis
The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 16, 2016 Category: Internal Medicine Authors: Ryan D. Geraets, Seung yon Koh, Michelle L. Hastings, Tammy Kielian, David A. Pearce and Jill M. Weimer Source Type: research

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural hist... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 16, 2016 Category: Internal Medicine Authors: Bertrand Degos, Yann Nadjar, Maria del Mar Amador, Foudil Lamari, Frédéric Sedel, Emmanuel Roze, Philippe Couvert and Fanny Mochel Source Type: research

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbiditie... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 14, 2016 Category: Internal Medicine Authors: Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart Hodgetts, Helen Leonard and Jenny Downs Source Type: research

Italian program for independent research on drugs: 10 year follow-up of funded studies in the area of rare diseases
In 2005 the Italian Medicines Agency (AIFA) started a program on independent research on drugs, with the aim to promote clinical research in areas of limited commercial interest. For 3 years (2005–2007) an are... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2016 Category: Internal Medicine Authors: Giuseppe Traversa, Lucia Masiero, Luciano Sagliocca and Francesco Trotta Source Type: research

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system
Pitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 (TCF4). We have developed a new way to collect information on (ultra-)rare disorde... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2016 Category: Internal Medicine Authors: Channa F. de Winter, Melanie Baas, Emilia K. Bijlsma, John van Heukelingen, Sue Routledge and Raoul C. M. Hennekam Source Type: research

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, pr... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2016 Category: Internal Medicine Authors: Anna Marcé-Grau, James Dalton, Javier López-Pisón, María Concepción García-Jiménez, Lorena Monge-Galindo, Ester Cuenca-León, Jesús Giraldo and Alfons Macaya Source Type: research

POEMS syndrome and calciphylaxis: an unrecognized cause of abnormal small vessel calcification
Calciphylaxis is a syndrome consisting of vascular calcification, thrombosis, and skin necrosis. The syndrome develops often in chronic hemodialysis patients. However, there have been several case reports on c... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2016 Category: Internal Medicine Authors: Nobuyuki Araki, Sonoko Misawa, Kazumoto Shibuya, Satoshi Ota, Takashi Oide, Asuka Kawano, Minako Beppu, Yukio Nakatani and Satoshi Kuwabara Source Type: research

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
Myotonic dystrophy type 1 (Steinert’s disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gast... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 4, 2016 Category: Internal Medicine Authors: Sigrid Baldanzi, Francesca Bevilacqua, Rita Lorio, Leda Volpi, Costanza Simoncini, Antonio Petrucci, Mirco Cosottini, Gabriele Massimetti, Gloria Tognoni, Giulia Ricci, Corrado Angelini and Gabriele Siciliano Source Type: research

Arrhythmogenic cardiomyopathy
(AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 2, 2016 Category: Internal Medicine Authors: Kalliopi Pilichou, Gaetano Thiene, Barbara Bauce, Ilaria Rigato, Elisabetta Lazzarini, Federico Migliore, Martina Perazzolo Marra, Stefania Rizzo, Alessandro Zorzi, Luciano Daliento, Domenico Corrado and Cristina Basso Source Type: research

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 31, 2016 Category: Internal Medicine Authors: Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, Aline Cano, Maria L. Couce, Mireia Del Toro, Maria Alice Donati, Angeles Garcia-Cazorla, David Gil-Ortega, Pedro Gomez-de Quero, Nathalie Guffon, Floris C. Hofstede, Sema Kalkan-Ucar, Mahmut C Source Type: research

Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 25, 2016 Category: Internal Medicine Authors: Christine Chiaverini, Coralie Roger, Eric Fontas, Emmanuelle Bourrat, Eva Bourdon-Lanoy, Christine Labrèze, Juliette Mazereeuw, Pierre Vabres, Christine Bodemer and Jean-Philippe Lacour Source Type: research

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 24, 2016 Category: Internal Medicine Authors: Bouwien E. Smid, Maria J. Ferraz, Marri Verhoek, Mina Mirzaian, Patrick Wisse, Herman S. Overkleeft, Carla E. Hollak and Johannes M. Aerts Source Type: research

Ten years of specialized adult care for phenylketonuria – a single-centre experience
Specialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten y... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 24, 2016 Category: Internal Medicine Authors: Ulrike Mütze, Alena Gerlinde Thiele, Christoph Baerwald, Uta Ceglarek, Wieland Kiess and Skadi Beblo Source Type: research

Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes
Vogt-Koyanagi-Harada disease (VKHD) is a rare granulomatous inflammatory disease that affects pigmented structures, such as eye, inner ear, meninges, skin and hair. This disease is mainly a Th1 lymphocyte medi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 24, 2016 Category: Internal Medicine Authors: Marcelo Mendes Lavezzo, Viviane Mayumi Sakata, Celso Morita, Ever Ernesto Caso Rodriguez, Smairah Frutuoso Abdallah, Felipe T. G. da Silva, Carlos Eduardo Hirata and Joyce Hisae Yamamoto Source Type: research

Survey of healthcare experiences of Australian adults living with rare diseases
This study explores the experiences of Australian adults living with rare diseases in relation to diagn... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 24, 2016 Category: Internal Medicine Authors: Caron Molster, Debra Urwin, Louisa Di Pietro, Megan Fookes, Dianne Petrie, Sharon van der Laan and Hugh Dawkins Source Type: research

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisyste... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 22, 2016 Category: Internal Medicine Authors: Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet Source Type: research

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation
Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed l... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 18, 2016 Category: Internal Medicine Authors: Christianne Verhaak, Paul de Laat, Saskia Koene, Marijke Tibosch, Richard Rodenburg, Imelda de Groot, Hans Knoop, Mirian Janssen and Jan Smeitink Source Type: research

The P42 peptide and Peptide-based therapies for Huntington’s disease
Huntington’s disease (HD) is a progressive neurodegenerative hereditary disease clinically characterised by the presence of involuntary movements, behavioural problems and cognitive decline. The disease-onset ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 17, 2016 Category: Internal Medicine Authors: Cecilia Marelli and Florence Maschat Source Type: research

Potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement process of orphan drugs
The objective of this study was to assess the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan dr... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 10, 2016 Category: Internal Medicine Authors: Katarzyna Kolasa, Krzysztof M. Zwolinski, Zoltan Kalo and Tomasz Hermanowski Source Type: research

Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive?
Regulatory and economic frameworks stimulated the research and development of orphan drugs, but very little has been done for devices necessary for the in-vivo diagnosis, prevention and treatment of life-threa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 3, 2016 Category: Internal Medicine Authors: Marc M Dooms Source Type: research

Vici syndrome: a review
Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 29, 2016 Category: Internal Medicine Authors: Susan Byrne, Carlo Dionisi-Vici, Luke Smith, Mathias Gautel and Heinz Jungbluth Source Type: research

The medical experience of a patient with a rare disease and her family
This letter considers the main challenges that people with rare diseases and their families face: delay in diagnosis, lack of appropriate support and information, and impaired access to treatment. The differen... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 29, 2016 Category: Internal Medicine Authors: Roberta Garau Source Type: research

The availability and affordability of orphan drugs for rare diseases in China
Orphan drugs are intended to treat, prevent or diagnose rare diseases. In recent years, China healthcare policy makers and patients have become increasingly concerned about orphan drug issues. However, very fe... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 27, 2016 Category: Internal Medicine Authors: Shiwei Gong, Yingxiao Wang, Xiaoyun Pan, Liang Zhang, Rui Huang, Xin Chen, Juanjuan Hu, Yi Xu and Si Jin Source Type: research

The effect of long-term danazol treatment on haematological parameters in hereditary angioedema
The 17-alpha-alkylated derivatives of testosterone are often used for the prevention of oedematous episodes in hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE). However, these agents can have ma... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 25, 2016 Category: Internal Medicine Authors: Kinga Viktória Kőhalmi, Nóra Veszeli, Zsuzsanna Zotter, Dorottya Csuka, Szabolcs Benedek, Éva Imreh, Lilian Varga and Henriette Farkas Source Type: research

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks
In the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising way to achieve equity in access to the most up to date medica... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 24, 2016 Category: Internal Medicine Authors: Teresinha Evangelista, Victoria Hedley, Antonio Atalaia, Matt Johnson, Stephen Lynn, Yann Le Cam and Kate Bushby Source Type: research

Systematic reviews in paediatric multiple sclerosis and Creutzfeldt-Jakob disease exemplify shortcomings in methods used to evaluate therapies in rare conditions
Randomized controlled trials (RCTs) are the gold standard design of clinical research to assess interventions. However, RCTs cannot always be applied for practical or ethical reasons. To investigate the curren... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 20, 2016 Category: Internal Medicine Authors: Steffen Unkel, Christian Röver, Nigel Stallard, Norbert Benda, Martin Posch, Sarah Zohar and Tim Friede Source Type: research

JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas
Endometrial stromal sarcomas (ESSs) belong to the rarest uterine malignancies (prevalence category (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 16, 2016 Category: Internal Medicine Authors: Andelko Hrzenjak Source Type: research

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutatio... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 10, 2016 Category: Internal Medicine Authors: R. P. Dias, C. R. Buchanan, N. Thomas, S. Lim, G. Solanki, SEJ Connor, T. G. Barrett and R. R. Kapoor Source Type: research