Articles
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Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O25
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Understanding off-label use and the new challenges
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O22 -
The experience of a charity in translating the results of basic research to therapies for patients
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O20 -
Use of animal models for exome prioritization of rare disease genes
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O19 -
The Biopontis Alliance Rare Disease Foundation (BARDF) – an innovative model for early stage rare disease therapy financing and development
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O18 -
OrphanAnesthesia – anesthesia recommendations for patients suffering from rare diseases
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O16 -
RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O14 -
Evolution of national and European policies in the field of rare diseases and their impact over the past five years
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P13 -
The importance of helplines in National Plans
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O12 -
German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O10 -
New e-health services for the European Network for Rare and Congenital Anaemias (e-ENERCA)
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P9 -
The RE(ACT) Initiative and the use of an online community to enhance research on rare diseases
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P8 -
Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P7 -
The French national registry for rare diseases: an integrated model from care to epidemiology and research
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O7 -
UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P6 -
National rare diseases registry in Spain: pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR)
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P5 -
Characterization and classification of Rare Disease Registries by using exploratory data analyses
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P4 -
Preserving the owner’s autonomy in networks of patient registries and biobanks
Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P3 -
Differences in immunoreactive trypsin values between type of feeding and ethnicity in neonatal cystic fibrosis screening: a cross-sectional study
We studied the differences in immunoreactive trypsin (IRT) in neonatal screening for cystic fibrosis (CF) associated individually with the age of the newborn, ethnicity and environmental temperature. In this s...
Citation: Orphanet Journal of Rare Diseases 2014 9:166 -
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication
Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the...
Citation: Orphanet Journal of Rare Diseases 2014 9:167 -
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study
The Birt-Hogg-Dubé syndrome is a rare cancer susceptibility syndrome characterised by renal tumours, lung cysts and pneumothoraces, and fibrofolliculomas. It is caused by dominantly inherited mutations in FLCN. O...
Citation: Orphanet Journal of Rare Diseases 2014 9:163 -
Management of endocrino-metabolic dysfunctions after allogeneic hematopoietic stem cell transplantation
Allogeneic hematopoietic stem cell transplantation is mainly indicated in bone marrow dysfunction related to blood diseases, but also in some rare diseases (adrenoleucodystrophy, mitochondrial neurogastrointes...
Citation: Orphanet Journal of Rare Diseases 2014 9:162 -
Pharmaceutical pricing, cost containment and new treatments for rare diseases in children
Cost-containment in healthcare spending has become a central issue in public policy and healthcare reform, especially as the affordable care act adds millions of people to public and private insurance rolls. I...
Citation: Orphanet Journal of Rare Diseases 2014 9:152 -
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review
In recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syr...
Citation: Orphanet Journal of Rare Diseases 2014 9:159 -
Holt Oram syndrome: a registry-based study in Europe
Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EU...
Citation: Orphanet Journal of Rare Diseases 2014 9:156 -
Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. Here we describe the clinical and molecular characteristics of 20 patients with dis...
Citation: Orphanet Journal of Rare Diseases 2014 9:158 -
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
Limb malformations are rare disorders with high genetic heterogeneity. Although multiple genes/loci have been identified in limb malformations, underlying genetic factors still remain to be determined in most ...
Citation: Orphanet Journal of Rare Diseases 2014 9:125 -
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 g...
Citation: Orphanet Journal of Rare Diseases 2014 9:116 -
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1
Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations o...
Citation: Orphanet Journal of Rare Diseases 2014 9:113 -
Ovarian teratoma-associated anti-NMDAR encephalitis: a systematic review of reported cases
The association of ovarian teratoma and anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a serious and potentially fatal pathology that occurs in young women and that is under-recognized. Our objecti...
Citation: Orphanet Journal of Rare Diseases 2014 9:157 -
Orphan drugs expenditure in the Netherlands in the period 2006–2012
The relatively low budget impact of orphan drugs is often used as an argument in reimbursement decisions. However, overall, the budget impact of orphan drugs can still be substantial. In this study, we assess ...
Citation: Orphanet Journal of Rare Diseases 2014 9:154 -
Nationwide patient registry for GNE myopathy in Japan
GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationw...
Citation: Orphanet Journal of Rare Diseases 2014 9:150 -
Natural history of angiomyolipoma in lymphangioleiomyomatosis: implications for screening and surveillance
LAM is a rare disease of women categorised by lung cysts and lymphatic abnormalities. The disease occurs sporadically or associated with Tuberous Sclerosis Complex (TSC-LAM). Angiomyolipoma, a benign tumour, p...
Citation: Orphanet Journal of Rare Diseases 2014 9:151 -
Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition
Patients with non-transfusion-dependent thalassaemia (NTDT) have a genetic defect or combination of defects that affect haemoglobin synthesis, but which is not severe enough to require regular blood transfusio...
Citation: Orphanet Journal of Rare Diseases 2014 9:131 -
Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasis
Loss-of-function point mutations in the cathepsin C gene are the underlying genetic event in patients with Papillon-Lefèvre syndrome (PLS). PLS neutrophils lack serine protease activity essential for cathelici...
Citation: Orphanet Journal of Rare Diseases 2014 9:148 -
STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is co...
Citation: Orphanet Journal of Rare Diseases 2014 9:146 -
Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI
Osteogenesis imperfecta (OI) is a hereditary disease causing reduced bone mass, increased fracture rate, long bone deformities and vertebral compressions. Additional non skeletal findings are caused by impaire...
Citation: Orphanet Journal of Rare Diseases 2014 9:145 -
Atypical multisensory integration in Niemann-Pick type C disease – towards potential biomarkers
Niemann-Pick type C (NPC) is an autosomal recessive disease in which cholesterol and glycosphingolipids accumulate in lysosomes due to aberrant cell-transport mechanisms. It is characterized by progressive and...
Citation: Orphanet Journal of Rare Diseases 2014 9:149 -
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical pre...
Citation: Orphanet Journal of Rare Diseases 2014 9:141 -
Simpson-Golabi-Behmel syndrome types I and II
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and...
Citation: Orphanet Journal of Rare Diseases 2014 9:138 -
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
Niemann-Pick disease type C (NPC) is a rare, fatal neurovisceral disorder with autosomal recessive inheritance, and featuring striking clinical variability dependent on the age at onset of neurological symptom...
Citation: Orphanet Journal of Rare Diseases 2014 9:140 -
Rare diseases and orphan drugs: Latvian story
Ten years have passed since Latvia became a Member State of the EU in 2004. As a result European regulations, including those related to rare diseases and orphan drugs, have been applied to Latvian legislative...
Citation: Orphanet Journal of Rare Diseases 2014 9:147 -
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL...
Citation: Orphanet Journal of Rare Diseases 2014 9:143 -
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years
Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatm...
Citation: Orphanet Journal of Rare Diseases 2014 9:129 -
A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region
This article is a call for action to the relevant stakeholders to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region by looking into three main areas: (a) developin...
Citation: Orphanet Journal of Rare Diseases 2014 9:137 -
Behcet’s disease in budd-chiari syndrome
Behcet’s disease (BD) is a well-known cause of Budd-Chiari syndrome (BCS). Data are lacking on the presentation and outcome of BCS related to BD.
Citation: Orphanet Journal of Rare Diseases 2014 9:104 -
Reimbursement of orphan drugs in Belgium: what (else) matters?
Most orphan drugs do not meet traditional standards of cost-effectiveness. Yet, most orphan drugs are reimbursed, which implies that other factors are taken into account at the time of reimbursement. To increa...
Citation: Orphanet Journal of Rare Diseases 2014 9:139 -
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an estimated prevalence of about 1/3000, independent of ethnicity, race, or gender. Attention Deficit Hyperactivity like Disorder (ADHD)-li...
Citation: Orphanet Journal of Rare Diseases 2014 9:142 -
Gestational pemphigoid
Gestational pemphigoid (pemphigoid gestationis, PG) is a rare autoimmune skin disorder occurring characteristically during pregnancy. Autoantibodies against placental BP180 (also known as BPAG2 or collagen XVI...
Citation: Orphanet Journal of Rare Diseases 2014 9:136 -
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
Zellweger spectrum disorders are a group of autosomal recessive disorders characterized by impaired peroxisome functions. The clinical spectrum is broad, ranging from the classical most severe Zellweger syndro...
Citation: Orphanet Journal of Rare Diseases 2014 9:133
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- ISSN: 1750-1172 (electronic)