Keywords: بیماری های نادر; care services; rare diseases; children; well-being; mortality; natalityGDP, Gross domestic product; GP, General practitioner; NHS, National Health System; OECD, Organization for Economic Cooperation and Development
مقالات ISI بیماری های نادر (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Budgetary Impact and Cost Drivers of Drugs for Rare and Ultrarare Diseases
Keywords: بیماری های نادر; budgetary impact; drug prices; orphan medicinal products; prevalence; rare diseases; ultrarare diseases;
Severity classification of Tenosynovial Giant Cell Tumours on MR imaging
Keywords: بیماری های نادر; Pigmented Villonodular Synovitis; Giant cell tumor of tendon sheath; Tendons; Rare diseases; Giant cell tumors; Giant cells; Neoplasms; Magnetic resonance imaging; Classification;
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia
Keywords: بیماری های نادر; Phenylketonuria; Neonatal screening; Intellectual disability; Rare diseases; Fenilcetonúria; Triagem neonatal; Deficiência intelectual; Doenças raras;
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia
Keywords: بیماری های نادر; Phenylketonuria; Neonatal screening; Intellectual disability; Rare diseases; Fenilcetonúria; Triagem neonatal; Deficiência intelectual; Doenças raras;
Challenges in Research and Health Technology Assessment of Rare Disease Technologies: Report of the ISPOR Rare Disease Special Interest Group
Keywords: بیماری های نادر; cost-effectiveness; health policy; health technology assessment; orphan designation; rare diseases;
Deep neural models for extracting entities and relationships in the new RDD corpus relating disabilities and rare diseases
Keywords: بیماری های نادر; Biomedical corpora; Rare diseases; Disabilities; Deep neural networks; Entity recognition; Relationship classification;
How to favour efficient networking of teams working in the field of rare diseases? Experience of the CeRéMAI reference centre for auto-inflammatory diseases
Keywords: بیماری های نادر; Reference centre; Auto-inflammatory diseases; Intranet; Network; Rare diseases; France;
Peritoneal metastases of rare carcinomas treated with cytoreductive surgery and HIPEC - A single center case series
Keywords: بیماری های نادر; Peritoneal surface malignancies; Rare diseases; Cytoreductive surgery; HIPEC;
Biobanking: towards increased access of biomaterials in cystic fibrosis. Report on the pre-conference meeting to the 13th ECFS Basic Science Conference, Pisa, 30 March-2 April, 2016
Keywords: بیماری های نادر; BALF; broncho-alveolar lavage fluid; BBMRI-ERIC; Biobanking and Biomolecular Resources Research Infrastructure - European Research Infrastructure Consortium; BSWG; Basic Science Working Group; CF; cystic fibrosis; CFF; Cystic Fibrosis Foundation; CFTR;
El caso clÃnico: vigencia, valores y estrategias para abordar su escritura
Keywords: بیماری های نادر; Caso clÃnico; Publicación cientÃfica; Enfermedades raras; Medicina basada en la evidencia; Conocimiento; Hipótesis; Objetividad; Ãtica; AutorÃa; Case report; Scientific publication; Rare diseases; Evidence-based medicine; Knowledge; Hypothesis; Obje
Original ArticlesA Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
Keywords: بیماری های نادر; rare diseases; CDG phenotypes; PMM2-CDG; mutation; gene; ApoC3; Lipoprotein apoCIII; CDG; Congenital disorders of glycosylation; %CDT; Percentage of transferrin deficient in carbohydrates; ER; Endoplasmic reticulum; MPI; Mannosephosphate isomerase; PMM2;
Economic Burden of Illness among Persons with Hemophilia B from HUGS Vb: Examining the Association of Severity and Treatment Regimens with Costs and Annual Bleed Rates
Keywords: بیماری های نادر; burden of illness; economic outcome; prospective studies; rare diseases;
Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical Trials: An ISPOR COA Emerging Good Practices Task Force Report
Keywords: بیماری های نادر; rare diseases; clinical outcomes assessment; instrument development; clinical trials;
Mucopolysaccharidoses seen in adults in rheumatology
Keywords: بیماری های نادر; Mucopolysaccharidoses; Lysosomal storage diseases; Joint contractures; Spondyloepiphyseal dysplasia; Rare diseases; Enzyme replacement therapy;
Population pharmacokinetics of NNZ-2566 in healthy subjects
Keywords: بیماری های نادر; NNZ-2566; Population pharmacokinetics; First-time-in-humans; Rare diseases; Phase I; Modelling and simulation; Trofinetide;
Targeted pharmacotherapies for defective ABC transporters
Keywords: بیماری های نادر; 4-PBA; 4-phenylbutyrate; ABC; ATP-Binding Cassette; BRIC2; Benign Recurrent Intrahepatic Cholestasis type 2; BSEP; Bile Salt Export Pump; CF; Cystic Fibrosis; CFTR; Cystic Fibrosis Transmembrane conductance Regulator; CsA; Cyclosporin A; DMSO; DiMethylSul
SÃndrome de Mowat-Wilson: historia de vida de la fortaleza de una madre
Keywords: بیماری های نادر; Enfermedades raras; Estudio cualitativo; FenomenologÃa; Antecedentes; EnfermerÃa neurológica; Rare diseases; Qualitative research; Phenomenology; Life story; Neurological nursing;
FMFilter: A fast model based variant filtering tool
Keywords: بیماری های نادر; Rare diseases; Next generation sequencing; Variant filtering;
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification
Keywords: بیماری های نادر; Myotonic dystrophy; Myotonic dystrophy type 1; Steinert disease; Disease classification; Registry; Rare diseases; Medical care; Clinical trials; Healthcare;
Una revisión actualizada del sÃndrome de deleción (monosomÃa) 1p36
Keywords: بیماری های نادر; Enfermedades raras; Cromosoma 1; SÃndrome de monosomÃa 1p36; Microdeleción subtelomérica; Discapacidad intelectual; Rare diseases; Chromosome 1; Monosomy 1p36 syndrome; Sub-telomeric micro-deletion; Intellectual disability;
AGC1/2, the mitochondrial aspartate-glutamate carriers
Keywords: بیماری های نادر; AGC; aspartate/glutamate carrier; CNS; central nervous system; CTLN2; Type II citrullinemia; G3P; glycerol 3 phosphate; GOT; Glutamic-oxaloacetic transaminase; LDH; lactate dehydrogenase; MAS; malate aspartate shuttle; MCF; mitochondrial carrier family; M
35 lat Kompendium zespoÅów i rzadkich chorób dzieciÄcych pod redakcjÄ
doktora ZbysÅawa KopyÅcia
Keywords: بیماری های نادر; choroby rzadkie; piÅmiennictwo przeglÄ
dowe; historia medycyny; Rare diseases; Review literature as topic; History of medicine;
Bridging NCL research gaps
Keywords: بیماری های نادر; NCL; neuronal ceroid lipofuscinosis; LSD; lysosomal storage disease; ERT; enzyme replacement therapy; ER; endoplasmic reticulum; PoC; proof-of-concept; iPS cell; induced pluripotent stem cell; PD; Parkinson's disease; NPC; Niemann-Pick type C; SLOS; Smi
ÃTICA DE LA EQUIDAD Y JUSTICIA EN EL ACCESO AL DIAGNÃSTICO, TRATAMIENTO Y REHABILITACIÃN DE LOS PACIENTES CON ENFERMEDADES RARAS
Keywords: بیماری های نادر; Enfermedades raras; carga de enfermedad; beneficencia; justicia social.; Rare diseases; burden of disease; beneficence; social justice.;
Exome sequencing in a patient with Catel–Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate
Keywords: بیماری های نادر; Rare diseases; Congenital hand deformities; High-throughput sequencing
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder
Keywords: بیماری های نادر; CEMECO; Centro de Estudio de las MetabolopatÃas Congénitas-Center for Research on Inborn Errors of Metabolism in Córdoba-Argentina; CME; Continuing Medical Education; CPD; Continuing Professional Development; EUCERD; European Union Committee of Experts
Evolución de la demanda asistencial neuropediátrica en un hospital español de tercer nivel a lo largo de 20 años
Keywords: بیماری های نادر; Actividad asistencial; Retraso psicomotor; Autismo; Enfermedades raras; NeuropediatríaMedical care; Developmental delay disorders; Autism; Rare diseases; Paediatric neurology
Gaucher disease: A diagnostic challenge for internists
Keywords: بیماری های نادر; Gaucher disease; Lysosomial disorders; Rare diseases; Glucocerebroside; Chitotriosidase
Prioritizing treatment of rare diseases: A survey of preferences of Norwegian doctors
Keywords: بیماری های نادر; Norway; Rare diseases; Priority setting; Doctor preferences; Societal preferences; Orphan drugs;
An innovative portal for rare genetic diseases research: The semantic Diseasecard
Keywords: بیماری های نادر; Rare diseases; Biomedical semantics; Data integration; Interoperability; Semantic web;
Keywords: بیماری های نادر; HTA bodies; methods; orphan drugs; payers; rare diseases
Trasplante pulmonar en la linfangioleiomiomatosis esporádica. Estudio de 7 casos
Keywords: بیماری های نادر; Linfangioleiomiomatosis; Trasplante pulmonar; Enfermedades raras; Lymphangioleiomyomatosis; Lung transplant; Rare diseases;
Can a rare form of myasthenia gravis shed additional light on disease mechanisms?
Keywords: بیماری های نادر; Myasthenia gravis; Rare diseases; Anti-MuSK antibodies (cell-based assay); Salbutamol; Beta adrenergic agonists; Calcium-related signaling
Patient experiences of having a neuroendocrine tumour: A qualitative study
Keywords: بیماری های نادر; Multidisciplinary clinic; Neuroendocrine tumours; Qualitative research; Rare diseases; Social support; Patient experience; Patient care pathway
Les Centres Maladies Rares en Neurologie ont-ils changé les pratiques et la prise en charge de la maladie de Wilson ?
Keywords: بیماری های نادر; Maladie de Wilson; Cuivre; Réseau; Maladie rare; Wilson's disease; Copper; Network; Rare diseases;
CERVCO, Centre de référence des maladies vasculaires rares du cerveau et de l'oeil
Keywords: بیماری های نادر; CERVCO; Centre de référence; OEil; Cerveau; Pathologie neurovasculaire; Maladies rares; CERVCO; Reference center; Eye; Brain; Neurovascular disease; Rare diseases;
Comparative effectiveness research – what is it and how does one do it?
Keywords: بیماری های نادر; Comparative effectiveness research; Definitions; Rare diseases; Paediatrics; Cost effectiveness analysis; Cost benefit analysis
Plasmacytoid Urothelial Carcinoma, a Chemosensitive Cancer with Poor Prognosis, and Peritoneal Carcinomatosis
Keywords: بیماری های نادر; urinary bladder; rare diseases; urothelium; carcinoma; mortality; CR; complete response; GC; gemcitabine and cisplatin; OS; overall survival; PUC; plasmacytoid urothelial carcinoma;
Development of an elective course in rare and interesting diseases
Keywords: بیماری های نادر; Elective; Rare diseases; Hematological; Case-based; Pharmacy
FindZebra: A search engine for rare diseases
Keywords: بیماری های نادر; Rare diseases; Specialised search engine; Information retrieval; Evaluation of web search engines
Systematic review of hepatocellular carcinoma mortality rates among hepatitis B virus-infected renal transplant recipients, with supplemental analyses of liver failure and all-cause mortality
Keywords: بیماری های نادر; Hepatocellular carcinoma; Hepatitis B virus; Liver failure; Rare diseases; Renal transplantation; Mortality
Histiocitosis pulmonar de células de Langerhans: a propósito de un caso
Keywords: بیماری های نادر; Enfermedades intersticiales pulmonares; Histiocitosis de células de Langerhans; Enfermedades rarasLung diseases interstitial; Langerhans-cell histiocytosis; Rare diseases
Malformación de Arnold-Chiari y siringomielia en atención primaria. A propósito de un caso
Keywords: بیماری های نادر; Malformación de Arnold Chiari; Siringomielia; Enfermedad raraArnold-Chiari malformation; Syringomyelia; Rare diseases
Linfangioleiomiomatosis esporádica e hipertensión pulmonar. Estudio clÃnico-patológico en pacientes receptoras de un trasplante pulmonar
Keywords: بیماری های نادر; Linfangioleiomiomatosis; Hipertensión pulmonar; Trasplante pulmonar; Enfermedades raras; Lymphangioleiomyomatosis; Pulmonary hypertension; Lung transplantation; Rare diseases;
Vaccination in children with inborn errors of metabolism
Keywords: بیماری های نادر; Children; Inborn errors of metabolism; Rare diseases; Vaccinations; Vaccines;
What is a Rare Cancer?
Keywords: بیماری های نادر; Rare cancer; Rare diseases; Epidemiology; RARECARE;
Laminopatías. Enfermedades de la lámina nuclear
Keywords: بیماری های نادر; Laminopatías; Láminas; Envoltura nuclear; Enfermedades raras; Miopatías; Cardiomiopatía familiar; Progeria; Resistencia a la insulina; LipodistrofiaLaminopathies; Lamins; Nuclear envelope; Rare diseases; Myopathy; Familial cardiomyopathy; Progeria; Insuli
Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study
Keywords: بیماری های نادر; Rare diseases; Delphi approach; Health-related quality of life; Burden of illness
Incidence, prevalence and survival of patients with rare epithelial digestive cancers diagnosed in Europe in 1995–2002
Keywords: بیماری های نادر; Rare diseases; Digestive cancer; Small intestine; Anal canal; Gallbladder and extra-hepatic bile duct cancer; Cancer registries; Incidence; Prevalence; Survival