Keywords: بیماری نادر; Observer-reported outcome measure; Clinical trial; Rare disease; Dichloroacetate; Pyruvate dehydrogenase complex;
مقالات ISI بیماری 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.
Keywords: بیماری نادر; Pulmonary arterial hypertension; Orphan drug; Rare disease; Drug evaluation;
Keywords: بیماری نادر; CAPSNet; Canadian Association of Pediatric Surgery Network; RCT; randomized controlled trial; CDH; congenital diaphragmatic hernia; CDHSG; Congenital Diaphragmatic Hernia Study Group; ACS NSQIP; American College of Surgeons National Surgery Quality Improv
Keywords: بیماری نادر; Rare disease; Cohen syndrome; Genetic diagnosis; Rehabilitation therapy;
Keywords: بیماری نادر; Dravet syndrome; epidemiology; incidence; prevalence; rare disease;
Keywords: بیماری نادر; asfotase alfa; clinical outcomes; hypophosphatasia; rare disease;
Keywords: بیماری نادر; availability; medicine expenditure; orphan medicines; patient access; rare disease;
Keywords: بیماری نادر; Rare disease; Induced pluripotent; Pluripotency; iPSC; CRISPR; Disease modeling;
Keywords: بیماری نادر; TAA; Thoracic aortic aneurysm; TAAD; Thoracic aortic aneurysm and dissection; AAA; Abdominal aortic aneurysm; BAV; Bicuspid aortic valve; MVD; Mitral valve disease; MVP; Mitral valve prolapse; TV; Tricuspid valve; MFS; Marfan syndrome; LDS; Loeys-Dietz
Keywords: بیماری نادر; orphan drugs; person trade-off; discrete choice experiment; rare disease; resource allocation; societal preferences;
Keywords: بیماری نادر; Hereditary multiple exostoses; Multiple osteochondromas; Sport; Physical activity; Rare disease; Clinical case-control study;
Keywords: بیماری نادر; Selenium; Genomics; Gene prediction; Adaptation; Common disease; Rare disease;
Keywords: بیماری نادر; Rare disease; Transitional care; Care delivery; Genetic disease;
Keywords: بیماری نادر; Rare disease; Sterol; Homeostasis; Sterol regulatory element binding protein-2; ABCG8; ATP-binding cassette sub-family G member 8; SREBP-2; Sterol regulatory element-binding protein 2; LDL; low-density lipoprotein; HMGCR; 3-Hydroxy-3-Methylglutaryl-CoA re
Keywords: بیماری نادر; Cystic fibrosis; Rare disease; Charitable organizations; Research funding; Environmental scan;
Keywords: بیماری نادر; 4; cancer; malignancy; neoplasm; rare disease;
Keywords: بیماری نادر; Clinical decision-making; delayed diagnosis; neuromuscular disorder; parent-report; rare disease;
Keywords: بیماری نادر; disease awareness; orphan drug development; patient-centric trials; patient recruitment; rare disease; social media;
Keywords: بیماری نادر; Laser treatment; Osler–Weber–Rendu disease; Rare disease; Telangiectasia; Diode laser photocoagulation
Keywords: بیماری نادر; Proton beam therapy; Mucosal melanoma; Rare disease; Nasal cavity; Head and neck cancer;
Keywords: بیماری نادر; Sarcoma; GIST tumors; targeted therapy; oncology trials; rare disease; kidney disease; fibrosis;
Keywords: بیماری نادر; DHT; digital health technology; GMDI; Genetic Metabolic Dietitians International; IEMs; inborn errors of metabolism; Leu; leucine; Lys; lysine; MSUD; maple syrup urine disease; MNT; metabolic nutrition therapy; Phe; phenylalanine; PKU; phenylketonuria; PD
Keywords: بیماری نادر; Progressive pseudorheumatoid arthropathy of childhood; Progressive pseudorheumatoid dysplasia; Gait analysis; Muscle weakness; Rare disease; Bone dysplasia
Keywords: بیماری نادر; Responsiveness; Patient-reported outcomes; Minimal important difference; Rare disease; Lysosomal storage disease;
Keywords: بیماری نادر; big data; drug safety; orphan drug; pharmacovigilance; rare disease; social media;
Keywords: بیماری نادر; Ectopia cordis; Tratamiento quirúrgico; Enfermedad raraEctopia cordis; Surgical treatment; Rare disease
Keywords: بیماری نادر; Rare disease; Delphi technique; Health policy; Centre of expertise; European reference network;
Keywords: بیماری نادر; Rare disease; Chronic sorrow; e-Health communication; Social support; Mothers; Phenomenology;
Keywords: بیماری نادر; Aicardi syndrome; rare disease; epilepsy; prevalence;
Keywords: بیماری نادر; Diagnostic criteria; Neurocutaneous disease; Neurofibromatosis 1; NF1; Rare disease
Keywords: بیماری نادر; drug development; orphan drugs; rare disease; drug reimbursement;
Keywords: بیماری نادر; Rare disease; Exon skipping; Splicing; Antisense oligonucleotides;
Keywords: بیماری نادر; Rare disease; Leukodystrophy; Health database; Ethics committee; Ethical management
Keywords: بیماری نادر; Amyotrophic lateral sclerosis; Heritability; Genetic factors; Rare disease; Whole exome sequencing;
Keywords: بیماری نادر; Rare disease; Orphan disease; Disability registry; Prevalence;
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina
Keywords: بیماری نادر; OAT; ornithine δ-aminotransferase; PLP; pyridoxal 5â²-phosphate; GA; gyrate atrophy; L-Orn; L-ornithine; GSA; glutamic-γ-semialdehyde; α-KG; α-ketoglutarate; P5C; pirroline-5-carboxylate; OATwt; OAT wild-type; OATV332M; OAT bearing the V332M mutation
Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation
Keywords: بیماری نادر; Glycosylation disorder; Glycosyltransferase; Rare disease; Mouse model; Ganglioside;
Development of a database to record orofacial manifestations in patients with rare diseases: a status report from the ROMSE (recording of orofacial manifestations in people with rare diseases) database
Keywords: بیماری نادر; rare disease; orofacial manifestation; database; interdisciplinary dentistry; European Council recommendation;
Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients
Keywords: بیماری نادر; Dravet syndrome; SCN1A; Rare disease; Vagus nerve stimulation; VNS; Neuromodulation; Refractory epilepsy;
Incontinentia Pigmenti: AÂ Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols
Keywords: بیماری نادر; Child neurology; incontinentia pigmenti; neuroectodermal dysplasia; rare disease; treatment protocol;
Type 1 Gaucher disease (CYP2D6-eliglustat)
Keywords: بیماری نادر; Gaucher disease; Rare disease; Eliglustat;
“Rare place where I feel normal”: Perceptions of a social support conference among parents of and people with Moebius syndrome
Keywords: بیماری نادر; Moebius syndrome; Rare disease; Stigma; Social support; Companionship support; Facial paralysis;
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I
Keywords: بیماری نادر; Protein therapeutics; Polymer conjugates; Primary hyperoxaluria; Rare disease; Peroxisomal targeting; Enzyme administration; PH1; primary hyperoxaluria type I; AGT; alanine:glyoxylate aminotransferase; PLP; pyridoxal 5â²-phosphate; PTS; peroxisomal targe
4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation
Keywords: بیماری نادر; Inflammation; Isoprostanes; Oxidative stress; Rare disease; Orphan disease; CDKL5; FOXG1; MecP2;
Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC
Keywords: بیماری نادر; Rare disease; Vitamin B12; Methionine synthase; Methionine synthase reductase; MMACHC; MMADHC;
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations
Keywords: بیماری نادر; Immunodeficiency; stem cells; hematopoiesis; rare disease; transplantation; BMF; Bone marrow failure; EBV-LCL; Epstein-Barr virus transformed B lymphoblastoid cell line; H2A; Histone 2A; γ-H2AX; Phospho-histone H2AX; HD; Healthy donor; HSCT; Hematopoieti
Alkaptonuria: An example of a “fundamental disease”-A rare disease with important lessons for more common disorders
Keywords: بیماری نادر; AGE; advanced glycation end products; AKU; alkaptonuria; ECM; extracellular matrix; HDMPs; high density mineralised protrusions; HGD; homogentisate 1,2 dioxygenase; HGA; homogentisic acid; OMIM; online Mendelian inheritance in man; OA; osteoarthritis; PG;
Exome sequencing a review of new strategies for rare genomic disease research
Keywords: بیماری نادر; Genomics; Exome sequencing; Rare disease; Genetics; Genome; Diagnosis; Personalized medicine;
PHACES syndrome: Diode laser photocoagulation of intraoral hemangiomas in six young patients
Keywords: بیماری نادر; Laser treatment; Rare disease; Vascular tumor
A capillary electrophoresis method with dynamic pH junction stacking for the monitoring of cerebroside sulfotransferase
Keywords: بیماری نادر; Capillary electrophoresis (CE); Cerebroside sulfotransferase (CST); Dynamic pH junction stacking; Enzyme assay; Metachromatic leukodystrophy (MLD); Rare disease