- 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...Orphanet Journal of Rare Diseases 2016 11:32Published on: 31 March 2016 - LETTER TO THE EDITOR
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 ...Orphanet Journal of Rare Diseases 2016 11:31Published on: 25 March 2016 - RESEARCH
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...Orphanet Journal of Rare Diseases 2016 11:30Published on: 24 March 2016 - REVIEW
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...Orphanet Journal of Rare Diseases 2016 11:29Published on: 24 March 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:27Published on: 24 March 2016 - 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.Orphanet Journal of Rare Diseases 2016 11:28Published on: 24 March 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:26Published on: 22 March 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:25Published on: 18 March 2016 - REVIEW
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 ...Orphanet Journal of Rare Diseases 2016 11:24Published on: 17 March 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:23Published on: 10 March 2016 - POSITION STATEMENT
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...Orphanet Journal of Rare Diseases 2016 11:22Published on: 3 March 2016 - LETTER TO THE EDITOR
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...Orphanet Journal of Rare Diseases 2016 11:19Published on: 29 February 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:21Published on: 29 February 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:20Published on: 27 February 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:18Published on: 25 February 2016 - POSITION STATEMENT
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...Orphanet Journal of Rare Diseases 2016 11:17Published on: 24 February 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:16Published on: 20 February 2016 - 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 ...Orphanet Journal of Rare Diseases 2016 11:15Published on: 16 February 2016 - LETTER TO THE EDITOR
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...Orphanet Journal of Rare Diseases 2016 11:14Published on: 10 February 2016 - LETTER TO THE EDITOR
Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype
Posterior cortical atrophy (PCA) represents a special clinicoradiologic syndrome characterized by progressive visuospatial and visuoperceptual deficits. PCA and corticobasal syndrome (CBS) may share similar pa...Orphanet Journal of Rare Diseases 2016 11:13Published on: 6 February 2016 - RESEARCH
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...Orphanet Journal of Rare Diseases 2016 11:12Published on: 3 February 2016 - RESEARCH
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...Orphanet Journal of Rare Diseases 2016 11:11Published on: 2 February 2016 - RESEARCH
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...Orphanet Journal of Rare Diseases 2016 11:10Published on: 29 January 2016 - 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...Orphanet Journal of Rare Diseases 2016 11:9Published on: 27 January 2016 - ERRATUMOrphanet Journal of Rare Diseases 2016 11:6Published on: 25 January 2016
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