viernes, 1 de abril de 2016

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    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...
    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 Coker, Rosa Lama-More, Mercedes Martinez-Pardo Casanova…
    Orphanet Journal of Rare Diseases 2016 11:32
    Published on: 31 March 2016

    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 ...
    Christine Chiaverini, Coralie Roger, Eric Fontas, Emmanuelle Bourrat, Eva Bourdon-Lanoy, Christine Labrèze, Juliette Mazereeuw, Pierre Vabres, Christine Bodemer and Jean-Philippe Lacour
    Orphanet Journal of Rare Diseases 2016 11:31
    Published on: 25 March 2016

    Survey of healthcare experiences of Australian adults living with rare diseases

    Few studies have examined whether the healthcare needs of people living with rare diseases are being met. This study explores the experiences of Australian adults living with rare diseases in relation to diagn...
    Caron Molster, Debra Urwin, Louisa Di Pietro, Megan Fookes, Dianne Petrie, Sharon van der Laan and Hugh Dawkins
    Orphanet Journal of Rare Diseases 2016 11:30
    Published on: 24 March 2016

    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...
    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
    Orphanet Journal of Rare Diseases 2016 11:29
    Published on: 24 March 2016

    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...
    Ulrike Mütze, Alena Gerlinde Thiele, Christoph Baerwald, Uta Ceglarek, Wieland Kiess and Skadi Beblo
    Orphanet Journal of Rare Diseases 2016 11:27
    Published on: 24 March 2016

    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.
    Bouwien E. Smid, Maria J. Ferraz, Marri Verhoek, Mina Mirzaian, Patrick Wisse, Herman S. Overkleeft, Carla E. Hollak and Johannes M. Aerts
    Orphanet Journal of Rare Diseases 2016 11:28
    Published on: 24 March 2016

    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...
    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, Jesus Gardeazabal…
    Orphanet Journal of Rare Diseases 2016 11:26
    Published on: 22 March 2016

    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...
    Christianne Verhaak, Paul de Laat, Saskia Koene, Marijke Tibosch, Richard Rodenburg, Imelda de Groot, Hans Knoop, Mirian Janssen and Jan Smeitink
    Orphanet Journal of Rare Diseases 2016 11:25
    Published on: 18 March 2016

    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 ...
    Cecilia Marelli and Florence Maschat
    Orphanet Journal of Rare Diseases 2016 11:24
    Published on: 17 March 2016

    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...
    Katarzyna Kolasa, Krzysztof M. Zwolinski, Zoltan Kalo and Tomasz Hermanowski
    Orphanet Journal of Rare Diseases 2016 11:23
    Published on: 10 March 2016
  11. REVIEW

    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...
    Susan Byrne, Carlo Dionisi-Vici, Luke Smith, Mathias Gautel and Heinz Jungbluth
    Orphanet Journal of Rare Diseases 2016 11:21
    Published on: 29 February 2016

    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...
    Shiwei Gong, Yingxiao Wang, Xiaoyun Pan, Liang Zhang, Rui Huang, Xin Chen, Juanjuan Hu, Yi Xu and Si Jin
    Orphanet Journal of Rare Diseases 2016 11:20
    Published on: 27 February 2016

    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...
    Kinga Viktória Kőhalmi, Nóra Veszeli, Zsuzsanna Zotter, Dorottya Csuka, Szabolcs Benedek, Éva Imreh, Lilian Varga and Henriette Farkas
    Orphanet Journal of Rare Diseases 2016 11:18
    Published on: 25 February 2016

    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...
    Teresinha Evangelista, Victoria Hedley, Antonio Atalaia, Matt Johnson, Stephen Lynn, Yann Le Cam and Kate Bushby
    Orphanet Journal of Rare Diseases 2016 11:17
    Published on: 24 February 2016

    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...
    Steffen Unkel, Christian Röver, Nigel Stallard, Norbert Benda, Martin Posch, Sarah Zohar and Tim Friede
    Orphanet Journal of Rare Diseases 2016 11:16
    Published on: 20 February 2016
  16. REVIEW

    JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas

    Endometrial stromal sarcomas (ESSs) belong to the rarest uterine malignancies (prevalence category <1-9/1,000,000). According to the new 2014 World Health Organisation (WHO) classification, they are separated ...
    Andelko Hrzenjak
    Orphanet Journal of Rare Diseases 2016 11:15
    Published on: 16 February 2016

    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...
    R. P. Dias, C. R. Buchanan, N. Thomas, S. Lim, G. Solanki, SEJ Connor, T. G. Barrett and R. R. Kapoor
    Orphanet Journal of Rare Diseases 2016 11:14
    Published on: 10 February 2016

    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

    There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening r...
    Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne-Marie Laberge, Aizeddin Mhanni, Fiona A. Miller…
    Orphanet Journal of Rare Diseases 2016 11:12
    Published on: 3 February 2016

    Extrathoracic investigation in adult patients with isolated pulmonary langerhans cell histiocytosis

    An important objective on diagnosis of patients with Langerhans cell histiocytosis (LCH) is to determine the extent of disease. However, whether systematic extrathoracic investigation is needed in adult patien...
    Abdellatif Tazi, Constance de Margerie-Mellon, Laetitia Vercellino, Jean Marc Naccache, Stéphanie Fry, Stéphane Dominique, Stéphane Jouneau, Gwenaël Lorillon, Emmanuelle Bugnet, Raphael Chiron, Benoit Wallaert, Dominique Valeyre and Sylvie Chevret
    Orphanet Journal of Rare Diseases 2016 11:11
    Published on: 2 February 2016

    The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

    It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus...
    Karen Anjema, Floris C. Hofstede, Annet M. Bosch, M. Estela Rubio–Gozalbo, Maaike C. de Vries, Carolien C.A. Boelen, Margreet van Rijn and Francjan J. van Spronsen
    Orphanet Journal of Rare Diseases 2016 11:10
    Published on: 29 January 2016
  21. REVIEW

    Gingival fibromatosis: clinical, molecular and therapeutic issues

    Gingival fibromatosis is a rare and heterogeneous group of disorders that develop as slowly progressive, local or diffuse enlargements within marginal and attached gingiva or interdental papilla. In severe cas...
    Katarzyna Gawron, Katarzyna Łazarz-Bartyzel, Jan Potempa and Maria Chomyszyn-Gajewska
    Orphanet Journal of Rare Diseases 2016 11:9
    Published on: 27 January 2016
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