Keywords: بیماری Pompe شروع زودهنگام; Late-onset Pompe disease; cerebral stroke; acid α-glucosidase; enzyme replacement therapy;
مقالات ISI بیماری Pompe شروع زودهنگام (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 Pompe شروع زودهنگام; CK; Creatine kinase; DBS; Dried blood spot; GAA; Alpha-glucosidase; GAG; Glycosaminoglycan; GBA; Beta-glucosidase; IDUA; Alpha-L-iduronidase; IOPD; Infantile-onset Pompe disease; LOPD; Late-onset Pompe disease; LSD; Lysosomal storage disorder; MPS; Mucopo
Keywords: بیماری Pompe شروع زودهنگام; Late-onset Pompe disease; Enzyme replacement therapy, exercise tolerance; VO2 peak;
Keywords: بیماری Pompe شروع زودهنگام; ALP; Alkaline Phosphatase; ALT; Alanine Aminotransferase; CNS; central nervous system; COD; Cause of Death; GAA; acid alpha glucosidase; GSD II; Glycogen Storage Disease Type II; INR; International Normalized Ratio; IV; Intravenous; LOPD; Late-Onset Pompe
Keywords: بیماری Pompe شروع زودهنگام; Hypothyroidism; Late-onset Pompe disease; Acid α-glucosidase enzyme; Glycogen
Case reportFirst clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica
Keywords: بیماری Pompe شروع زودهنگام; Glycogen storage disease type II; Late-onset Pompe disease; c.-32-13T>G mutation; c.2560C>T mutation; c.1551+42G>A mutation; Costa Rican family;
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
Keywords: بیماری Pompe شروع زودهنگام; Whole-exome sequencing; Pompe disease; Glycogen storage disease type II; Limb girdle muscular dystrophy; Acid-alpha-1,4-glucosidase deficiency; GAA; ATAV; Analysis Tool for Annotated Variants; BWA; Burrows-Wheeler Aligner; CAP; College of American Patholo
The emerging phenotype of late-onset Pompe disease: A systematic literature review
Keywords: بیماری Pompe شروع زودهنگام; Pompe disease; Glycogen storage disease type II; Late-onset Pompe disease; Natural history; Multisystem disease;
The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study
Keywords: بیماری Pompe شروع زودهنگام; Late-onset Pompe disease; Limb-girdle muscle weakness; HyperCKemia; Dried blood spots; Enzyme replacement therapy;
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5Â years
Keywords: بیماری Pompe شروع زودهنگام; Late-onset Pompe disease; LOPD; Enzyme replacement therapy; Alpha glucosidase deficiency; Myozyme;
Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease
Keywords: بیماری Pompe شروع زودهنگام; Late-Onset Pompe disease; Inspiratory pressure; Vital capacity; Ventilator; Ventilation; Wheelchair test;
Progression from respiratory dysfunction to failure in late-onset Pompe disease
Keywords: بیماری Pompe شروع زودهنگام; Late-onset Pompe disease; Respiratory failure; Vital capacity; Maximum inspiratory pressure; Hypercapnia; Respiratory control;
Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease
Keywords: بیماری Pompe شروع زودهنگام; A; adult; AET; aerobic exercise training; AUC; area under the curve; CI-MPR; cation-independent mannose-6-phosphate receptor; CLEAR; coordinated lysosomal expression and regulation transcriptome; ERT; enzyme replacement therapy; FA; fatty acid; FG; fast-t
Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement
Keywords: بیماری Pompe شروع زودهنگام; Late-onset Pompe disease; Acid maltase deficiency; Dysphagia; Bulbar dysfunction; Oropharyngeal dysphagia;
Quantitative computed tomography for enzyme replacement therapy in Pompe disease
Keywords: بیماری Pompe شروع زودهنگام; Computed tomography number; Late-onset Pompe disease; Enzyme replacement therapy; Liver; Hex4
Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature
Keywords: بیماری Pompe شروع زودهنگام; cm; Centimeters; CNS; Central nervous system; EM; Electron microscopy; FDA; Food and drug administration; FEV1; Forced expiratory volume in one second; FVC; Forced vital capacity; g; Grams; GAA; Acid α-glucosidase; HRLM; High resolution light microscopy;
Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease
Keywords: بیماری Pompe شروع زودهنگام; Respiratory muscle strength; Training; Pompe disease; Late-onset Pompe disease; Treatment; Respiratory weakness;
The Brazilian Consensus on the Management of Pompe Disease
Keywords: بیماری Pompe شروع زودهنگام; ALT; Alanine aminotransferase; AST; Aspartate aminotransferase; CK; Creatinine kinase; CK-MB; Creatinine kinase MB isoenzyme; CRIM; Cross-reactive immunologic material; EOPD; Early-onset Pompe disease; ERT; Enzyme replacement therapy; FEV1; Forced expirat