Keywords: بیماری ویلسون; Ceruloplasmin; Lipemia; Interference; Lipoclear; Ultracentrifugation; Wilson disease;
مقالات ISI بیماری ویلسون (ترجمه نشده)
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Keywords: بیماری ویلسون; Acute liver failure; Autoimmune hepatitis; Budd-Chiari syndrome; Wilson disease; Fulminant hepatic failure;
Keywords: بیماری ویلسون; Wilson disease; Mitochondria; Brain; Liver; Copper; Protein oxidation; 4-HNE; 4-hydroxynonenal; ANT; adenine-nucleotide-transporter; ATP7B; copper-transporting ATPase B; CS; citrate synthase; CuHis; copper histidine; GSH; glutathione; MMP; mitochondrial m
Keywords: بیماری ویلسون; Wilson disease; Modifier gene; Epigenetics; Mitochondria;
Keywords: بیماری ویلسون; Wilson disease; Copper; Ceruloplasmin; Liver failure;
Keywords: بیماری ویلسون; Genetic testing; Hemochromatosis; Wilson disease; Progressive familial intrahepatic cholestasis; Benign recurrent intrahepatic cholestasis; Lysosomal acid lipase deficiency; Gilbert syndrome; Alpha-1 antitrypsin deficiency;
Keywords: بیماری ویلسون; Dog; Liver; Bedlington terrier; Labrador retriever; Wilson disease; ATP7A; ATP7B; COMMD1;
Keywords: بیماری ویلسون; Wilson disease; Hereditary hemochromatosis; Genetic mutation; Biological function; Genotypes and phenotypes; WD; Wilson disease; HH; Hereditary hemochromatosis; TGN; trans-Golgi network; ATP7B; ATPase; Cu + transporting; beta polypeptide; HFE; hemochrom
Keywords: بیماری ویلسون; Wilson disease; hepatic encephalopathy; copper; ammoniaAHD, acquired hepatocerebral-degeneration; Cho, choline; EEG, electroencephalography; Glx, glutamine and glutamate; HE, hepatic encephalopathy; MHE, minimal hepatic encephalopathy; MRI, magnetic reson
Keywords: بیماری ویلسون; Inborn errors of metabolism; Wilson disease; Alpha-1 antitrypsin deficiency; Citrin deficiency; HFE-associated hemochromatosis;
Keywords: بیماری ویلسون; Wilson disease; NBIA; Neurodegeneration with brain iron accumulation; Manganism; Primary familial brain calcification; Chelating therapy;
Keywords: بیماری ویلسون; ATP7B; Wilson disease; Gene mutation; Splice-site; Aberrant transcripts; Genotype; Phenotype
Keywords: بیماری ویلسون; Genetic Liver Disease; Inherited Liver Disease; Mortality; Population; LTX; liver transplantation; WD; Wilson disease;
Keywords: بیماری ویلسون; ATP7B; Genotype-phenotype correlation; Wilson disease; WD;
Keywords: بیماری ویلسون; WES; whole exome sequencing; PALF; paediatric acute liver failure; US; United States; MDS; mitochondrial DNA depletion syndrome; WD; Wilson disease; EASL; European Association for the Study of the Liver; CT; computerized tomography; MRI; magnetic resonanc
Keywords: بیماری ویلسون; Hemochromatosis; Hepcidin; Ferritin; Cirrhosis; Wilson disease; Copper;
Keywords: بیماری ویلسون; Guidelines; Hepatitis; Liver disease; Wilson disease;
Keywords: بیماری ویلسون; Next-generation sequencing; Wilson disease; ATP7B; Molecular diagnosis; MiSeq
Keywords: بیماری ویلسون; ATP7B; Wilson disease; Copper; Saccharomyces cerevisiae; CCC2
Application of carbon sensors for potentiometric determination of copper(II) in water and biological fluids of Wilson disease patients. Studying the surface reaction using SEM, EDX, IR and DFT
Keywords: بیماری ویلسون; Ion selective electrodes; Metformin; Tricresylphosphate; Potentiometric determination; Copper; Wilson disease;
Copper dyshomeostasis in Wilson disease and Alzheimer's disease as shown by serum and urine copper indicators
Keywords: بیماری ویلسون; Copper; Ceruloplasmin; Wilson disease; Alzheimer's disease; Urine; Cu:Cp;
Ecchymoses diffuses révélant une maladie de Wilson : à propos d'un cas
Keywords: بیماری ویلسون; Maladie de Wilson; Troubles psychiatriques; Cirrhose hépatique; Imagerie par résonance magnétique nucléaire; Transplantation hépatique; Wilson disease; Mental disorder; Liver cirrhosis; Magnetic resonance imaging; Liver transplantation;
Novel mutations of ATP7B gene in Wilson's disease patients of South Indian cohort
Keywords: بیماری ویلسون; Wilson disease; ATP7B gene; Compound heterozygous variation;
AJM onlineClinical research studyUnderstanding and Reducing Ceruloplasmin Overuse with a Decision Support Intervention for Liver Disease Evaluation
Keywords: بیماری ویلسون; Alanine aminotransferase; Cirrhosis; Liver tests; Wilson disease;
Effects of tetrathiomolybdate and penicillamine on brain hydroxyl radical and free copper levels: A microdialysis study in vivo
Keywords: بیماری ویلسون; Wilson disease; Free copper; Hydroxyl radical; d-penicillamine; Tetrathiomolybdate; In vivo; OH-TA; 2-hydroterephthtate; PA; d-penicillamine; ROS; reactive oxygen species; TA; terephthalic acid; TM; tetrathiomolybdate; TX mice; toxicity milk mice;
MRI and oxidative stress markers in neurological worsening of Wilson disease following penicillamine
Keywords: بیماری ویلسون; Wilson disease; MRI; Penicillamine; Trientine; Worsening
A study of MRI changes in Wilson disease and its correlation with clinical features and outcome
Keywords: بیماری ویلسون; Wilson disease; MRI; DRI; ADC; FLAIR; Movement disorder; Cognitive impairment; Chorea; Athetosis; Worsening
Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins
Keywords: بیماری ویلسون; Wilson disease; ATP7B mutations; Haplotype analysis; Genetic epidemiology
Research ArticleHepatic steatosis in Wilson disease - Role of copper and PNPLA3 mutations
Keywords: بیماری ویلسون; NAFLD; non-alcoholic fatty liver disease; NAS; NAFLD-activity score; NASH; non-alcoholic steatohepatitis; PNPLA3; patatin-like phospholipase domain-containing protein 3; SNP; single nucleotide polymorphism; WD; Wilson disease; Wilson disease; PNPLA3; Stea
Multi-allele genotyping platform for the simultaneous detection of mutations in the Wilson disease related ATP7B gene
Keywords: بیماری ویلسون; Wilson disease; ATP7B gene mutations; Genotyping; Primer extension reaction; Visual detection; Multi-allele DNA biosensor;
d-Penicillamine induced elastosis perforans serpiginosa with involvement of glans penis
Keywords: بیماری ویلسون; d-penicillamine; elastosis perforans serpiginosa; glans penis; Wilson disease
Benign Hereditary Chorea: A Case Report and Brief Review of Inherited Choreas
Keywords: بیماری ویلسون; benign hereditary chorea; inherited choreas; Huntington's disease; Wilson disease
The plant decapeptide OSIP108 prevents copper-induced toxicity in various models for Wilson disease
Keywords: بیماری ویلسون; Wilson disease; Copper; OSIP108; Zebrafish; Hepatotoxicity;
The plant decapeptide OSIP108 prevents copper-induced apoptosis in yeast and human cells
Keywords: بیماری ویلسون; PQ; paraquat; ROS; reactive oxygen species; Cu; copper; WD; Wilson disease; aSMase; acid sphingomyelinase; dhSph; dihydrosphingosine; MTT; 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide; DHE; dihydroethidium; TUNEL; terminal deoxynucleotidyl
Potent and long-lasting inhibition of human P2X2 receptors by copper
Keywords: بیماری ویلسون; P2X2 receptor; Copper inhibition; Potent; Wilson disease; DMSO; dimethyl sulfoxide; DTT; dithiotreitol;
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations
Keywords: بیماری ویلسون; Wilson disease; ATP7B; Mutation; Copper;
SLC31 (CTR) family of copper transporters in health and disease
Keywords: بیماری ویلسون; SLC31; CTR; Copper; Transporter; Metallochaperone; Cisplatin; Menkes disease; Wilson disease;
Initial experience of pediatric liver transplantation - An Indian prospective
Keywords: بیماری ویلسون; Pediatric liver transplant; Biliary atresia; Wilson disease; Hepatoblastoma; Primary intrahepatic familial cholestasis (PIFC);
Effect of liver transplantation on brain magnetic resonance imaging pathology in Wilson disease: a case report
Keywords: بیماری ویلسون; Wilson disease; liver transplantation; copper metabolismchoroba Wilsona; przeszczepienie wątroby; metabolizm miedzi
Does brain degeneration in Wilson disease involve not only copper but also iron accumulation?
Keywords: بیماری ویلسون; Wilson disease; magnetic resonance imaging; copper; ironchoroba Wilsona; rezonans magnetyczny; miedź; żelazo
Acute focal dystonia induced by a tricyclic antidepressant in a patient with Wilson disease: a case report
Keywords: بیماری ویلسون; Wilson disease; dystonia; clomipraminechoroba Wilsona; dystonia; klomipramina
Efficacy and Safety of Oral Chelators in Treatment of Patients With Wilson Disease
Keywords: بیماری ویلسون; ATP7B; Metabolic Disorder; Wilsons disease; Wilson's Disease; DPA; D-penicillamine; WD; Wilson disease;
Molecular analysis of Wilson patients: Direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis
Keywords: بیماری ویلسون; Wilson disease; ATP7B; ATOX1; COMMD1; Gene analysis
Otras enfermedades metabólicas
Keywords: بیماری ویلسون; Enfermedad de Wilson; Enfermedades de los lisosomas; Mucopolisacaridosis; Esfingolipidosis; Wilson disease; Lisosomal storage disease; Mucopolysaccharidoses; Sphingomyelin-cholesterol lipidosis;
Protocolo de actuación en la sospecha clÃnica de enfermedad metabólica del hÃgado
Keywords: بیماری ویلسون; Hepcidina; Ceruloplasmina; Mutaciones del gen HFE; Hiperferritinemia; Anillo de Kayser-Fleischer; Hemocromatosis; Enfermedad de Wilson; Déficit de alfa-1-antitripsina; Hepcidin; Ceruloplasmin; HFE gene mutation; Hyperferritinemia; Kayser-Fleischer ring;
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient
Keywords: بیماری ویلسون; DNA; RNA; ATP7B; Wilson disease; Molecular diagnosis
Six novel ATP7B mutations in Thai patients with Wilson disease
Keywords: بیماری ویلسون; Wilson disease; ATP7B; DHPLC; Mutation; Thailand
Prognostic significance of neurologic examination findings in Wilson disease
Keywords: بیماری ویلسون; Wilson Disease; Hyperkinetic movement disorders; Prognosis; Neurologic signs; Neurologic exam
The biogenic methanobactin is an effective chelator for copper in a rat model for Wilson disease
Keywords: بیماری ویلسون; Methanobactin; Wilson disease; Treatment; Copper chelator; Metallothionein
Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson's disease diagnosis
Keywords: بیماری ویلسون; Exchangeable copper; Relative exchangeable copper (REC); Labile copper; ROC analysis; Wilson disease; Diagnosis;